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hpo.md

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1# Human Phenotype Ontology (HPO)
2
3Public term API: `https://ontology.jax.org/api/hp` (no key).
4
5| GET path | Use |
6|---|---|
7| `/search?q=seizure&page=0&limit=5` | Search terms; response `terms`, `totalCount` |
8| `/terms/HP%3A0001250` | Term details |
9| `/terms/HP%3A0001250/parents` | Direct parents |
10| `/terms/HP%3A0001250/children` | Direct children |
11| `/terms/HP%3A0001250/ancestors` | All ancestors |
12| `/terms/HP%3A0001250/descendants` | All descendants |
13| `/terms?filter=HP%3A0001250,HP%3A0001249` | Selected terms |
15Search is zero-based and needs `q`, `page`, and `limit`; encode query values.
16Term records include `id`, `name`, `definition`, `synonyms`, and `xrefs`.
17Hierarchy endpoints return arrays. An absent term can return null.
19Annotations use a separate service:
20`GET https://ontology.jax.org/api/network/annotation/HP%3A0001250`.
21Inspect its entity-specific response; there are no documented `/hpo/term/.../genes`
22or `/hpo/gene/...` routes in the current term API. For bulk gene/disease analyses,
23use the versioned HPO annotation downloads and preserve evidence and negation.
25Official schemas: [terms](https://ontology.jax.org/api/hp/docs/),
26[annotation network](https://ontology.jax.org/api/network/docs).

Human Phenotype Ontology (HPO)

Public term API: https://ontology.jax.org/api/hp (no key).

GET pathUse
/search?q=seizure&page=0&limit=5Search terms; response terms, totalCount
/terms/HP%3A0001250Term details
/terms/HP%3A0001250/parentsDirect parents
/terms/HP%3A0001250/childrenDirect children
/terms/HP%3A0001250/ancestorsAll ancestors
/terms/HP%3A0001250/descendantsAll descendants
/terms?filter=HP%3A0001250,HP%3A0001249Selected terms

Search is zero-based and needs q, page, and limit; encode query values. Term records include id, name, definition, synonyms, and xrefs. Hierarchy endpoints return arrays. An absent term can return null.

Annotations use a separate service: GET https://ontology.jax.org/api/network/annotation/HP%3A0001250. Inspect its entity-specific response; there are no documented /hpo/term/.../genes or /hpo/gene/... routes in the current term API. For bulk gene/disease analyses, use the versioned HPO annotation downloads and preserve evidence and negation.

Official schemas: terms, annotation network.

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