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Congenital disorder characterized by marked short stature associated with normal or high serum growth hormone (GH) and low serum insulin-like growth factor-1 (IGF-I) levels which fail to rise after exogenous GH administration

Property Value
dbo:alias
  • genetic pituitary dwarfism (1966), Laron dwarfism (1973), Laron-type dwarfism (1984), growth hormone insensitivity (1994), hereditary somatomedin deficiency, growth hormone receptor deficiency (GHRD)(1999) (en)
dbo:description
  • Nemoc (cs)
  • genetisch bedingter Kleinwuchs (de)
  • malattia genetica autosomica recessiva caratterizzata dalla mancata risposta dei tessuti alla somatotropina, a causa di una mutazione del recettore dell'ormone (it)
  • congenital disorder characterized by marked short stature associated with normal or high serum growth hormone (GH) and low serum insulin-like growth factor-1 (IGF-I) levels which fail to rise after exogenous GH administration (en)
dbo:diseasesDB
  • 7262
dbo:eMedicineSubject
  • ped (en)
dbo:eMedicineTopic
  • 1277 (en)
dbo:icd10
  • E34.3
dbo:icd9
  • 259.4
dbo:meshId
  • D046150
dbo:omim
  • 262500 (xsd:integer)
dbo:orpha
  • 633
dbo:thumbnail
dbo:wikiPageWikiLink
dbp:caption
dbp:causes
  • Autosomal recessive growth hormone receptor gene mutation (en)
dbp:differential
  • STAT5b, IGF1 gene mutation, ALS deficiency, IGF-1 receptor mutation, familial short stature, malnutrition, hepatic disease, congenital growth delay, hypopituitarism (en)
dbp:diseasesdb
  • 7262 (xsd:integer)
dbp:duration
  • Lifelong (en)
dbp:emedicinesubj
  • ped (en)
dbp:emedicinetopic
  • 1277 (xsd:integer)
dbp:frequency
  • 1 (xsd:integer)
dbp:icd
  • 259.400000 (xsd:double)
  • (en)
  • E34.3 (en)
dbp:meshid
  • D046150 (en)
dbp:name
  • Laron syndrome (en)
dbp:omim
  • 262500 (xsd:integer)
dbp:onset
  • Present at birth (en)
dbp:orphanet
  • 633 (xsd:integer)
dbp:risks
  • Hypoglycemia, seizures, reduced intellectual capacity, osteopenia (en)
dbp:specialty
dbp:symptoms
  • Short stature, truncal obesity, facial dysmorphism (en)
dbp:synonyms
  • genetic pituitary dwarfism , Laron dwarfism , Laron-type dwarfism , growth hormone insensitivity , hereditary somatomedin deficiency, growth hormone receptor deficiency (en)
dbp:treatment
dbp:wikiPageUsesTemplate
dbp:wordnet_type
dct:subject
gold:hypernym
rdf:type
rdfs:label
  • Laron syndrome (en)
  • متلازمة لارون (ar)
  • Laron-Syndrom (de)
  • Laronův syndrom (cs)
  • Síndrome de Laron (es)
  • Syndrome de Laron (fr)
  • Sindrome di Laron (it)
  • ラロン症候群 (ja)
  • 라론 증후군 (ko)
  • Karłowatość typu Larona (pl)
  • Синдром Ларона (ru)
  • Larons syndrom (sv)
  • Синдром Ларона (uk)
owl:sameAs
prov:wasDerivedFrom
foaf:depiction
foaf:isPrimaryTopicOf
is dbo:knownFor of
is dbo:wikiPageRedirects of
is dbo:wikiPageWikiLink of
is foaf:primaryTopic of
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