a web application to search and navigate the Human Phenotype Ontology (HPO)

GA4GH Phenopacket to LLM prompt

Collections of GA4GH phenopackets that represent individuals with Mendelian diseases.

Python Phenopacket Tools

Clinical intuition with likelihood ratios

A generic ontology term microservice

Slurm templates and notes.

An Angular/Springboot web application for the loading, editing, saving of data that follows the Phenopacket Schema

An app and library for building, conversion, and validation of GA4GH Phenopackets.

API for use in representing and manipulating genomic variation

BioDownload library

A Tool to Annotate and Prioritize Exome Variants

A system for managing OBO PURLs

Standard terms for annotating mammalian phenotypic data

Medical action ontology

PATO - the Phenotype And Trait Ontology

An ontology of cell types

An ontology of gross anatomy covering metazoa. Works in concert with https://github.com/obophenotype/cell-ontology

ROBOT is an OBO Tool

Ontology for the description of human clinical features

phenol: Phenotype ontology library

Linked Open Data Modeling Language

LIkelihood Ratio Interpretation of Clinical AbnormaLities

Basic and Advanced OBO Graphs: specification and reference implementation

🔥 FHIR 101 - A Practical Guide

Repository for the GA4GH phenopacket schema