# HPO (Human Phenotype Ontology) ## Base URL ``` https://ontology.jax.org/api/hp ``` ## Auth No API key required. ## Important: URL-encode colons in HP IDs — `HP:0001250` becomes `HP%3A0001250` ## Key Endpoints | Endpoint | Description | |----------|-------------| | `/hpo/search?q={query}&max={n}` | Search HPO terms by name | | `/hpo/term/{id}` | Term details | | `/hpo/term/{id}/genes` | Genes associated with a phenotype | | `/hpo/term/{id}/diseases` | Diseases associated with a phenotype | | `/hpo/term/{id}/children` | Child terms in hierarchy | | `/hpo/term/{id}/parents` | Parent terms | | `/hpo/gene/{gene_id}` | Phenotypes for a gene (Entrez ID) | | `/hpo/disease/{disease_id}` | Phenotypes for a disease (OMIM/ORPHA) | ## Example Calls ``` # Search for "seizure" https://ontology.jax.org/api/hp/hpo/search?q=seizure&max=5 # Term details for Seizure https://ontology.jax.org/api/hp/hpo/term/HP%3A0001250 # Genes associated with Seizure https://ontology.jax.org/api/hp/hpo/term/HP%3A0001250/genes # Diseases for Seizure https://ontology.jax.org/api/hp/hpo/term/HP%3A0001250/diseases # Phenotypes for SCN1A (Entrez 6323) https://ontology.jax.org/api/hp/hpo/gene/6323 ``` ## Response Format JSON. Terms: `id`, `name`, `definition`, `synonyms`. Gene associations: `genes[]` with `geneId`, `geneSymbol`. Diseases: `diseases[]` with `diseaseId`, `diseaseName`. ## Rate Limits No published limits. Bulk annotation files at https://hpo.jax.org/data/annotations