---
title: "HPO (Human Phenotype Ontology)"
description: "| 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/{"
type: skill
canonical_url: https://claudary.paisolsolutions.com/skills/hpo
source: "Claudary"
difficulty: intermediate
author: "Claude Code Knowledge Pack"
date: 2026-07-10T11:25:17.039Z
license: CC-BY-4.0
attribution: "HPO (Human Phenotype Ontology) — Claudary (https://claudary.paisolsolutions.com/skills/hpo)"
---

# HPO (Human Phenotype Ontology)
| 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/{

## Overview

# 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

---

Source: [Claudary](https://claudary.paisolsolutions.com/skills/hpo) · https://claudary.paisolsolutions.com