manus-skills/.kortix/opencode/skills/data/database-lookup/references/hpo.md
zhukang 1c7abd81d1 All 310 Manus skill-hub community skills as a Kortix marketplace registry
- 310 registry:skill items, 1528 files, 7 categories (hub tags)
- registry.json generated by @kortix/registry buildRegistry
- nested SKILL.md in sn-da-* renamed SUBSKILL.md (no phantom skills)
- provenance + licenses: SOURCES.md
2026-09-15 13:37:20 +08:00

1.4 KiB

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