scientific-skills/database-lookup/references/hpo.md
https://ontology.jax.org/api/hp
No API key required.
HP:0001250 becomes HP%3A0001250| 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) |
# 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
JSON. Terms: id, name, definition, synonyms. Gene associations: genes[] with geneId, geneSymbol. Diseases: diseases[] with diseaseId, diseaseName.
No published limits. Bulk annotation files at https://hpo.jax.org/data/annotations