62 lines
1.8 KiB
Markdown
62 lines
1.8 KiB
Markdown
---
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title: "HPO (Human Phenotype Ontology)"
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task: ""
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lineage_type: import
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upstream_source: https://github.com/K-Dense-AI/scientific-agent-skills/blob/9c9bd2e9/skills/database-lookup/references/hpo.md
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upstream_sha: 9c9bd2e9
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imported_at: 2026-06-26
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prompt_class: prompt
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upstream_changes: accepted
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author: upstream
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validated: false
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---
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# HPO (Human Phenotype Ontology)
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## Base URL
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```
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https://ontology.jax.org/api/hp
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```
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## Auth
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No API key required.
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## Important: URL-encode colons in HP IDs — `HP:0001250` becomes `HP%3A0001250`
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## Key Endpoints
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| Endpoint | Description |
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|----------|-------------|
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| `/hpo/search?q={query}&max={n}` | Search HPO terms by name |
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| `/hpo/term/{id}` | Term details |
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| `/hpo/term/{id}/genes` | Genes associated with a phenotype |
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| `/hpo/term/{id}/diseases` | Diseases associated with a phenotype |
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| `/hpo/term/{id}/children` | Child terms in hierarchy |
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| `/hpo/term/{id}/parents` | Parent terms |
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| `/hpo/gene/{gene_id}` | Phenotypes for a gene (Entrez ID) |
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| `/hpo/disease/{disease_id}` | Phenotypes for a disease (OMIM/ORPHA) |
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## Example Calls
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```
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# Search for "seizure"
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https://ontology.jax.org/api/hp/hpo/search?q=seizure&max=5
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# Term details for Seizure
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https://ontology.jax.org/api/hp/hpo/term/HP%3A0001250
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# Genes associated with Seizure
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https://ontology.jax.org/api/hp/hpo/term/HP%3A0001250/genes
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# Diseases for Seizure
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https://ontology.jax.org/api/hp/hpo/term/HP%3A0001250/diseases
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# Phenotypes for SCN1A (Entrez 6323)
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https://ontology.jax.org/api/hp/hpo/gene/6323
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```
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## Response Format
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JSON. Terms: `id`, `name`, `definition`, `synonyms`. Gene associations: `genes[]` with `geneId`, `geneSymbol`. Diseases: `diseases[]` with `diseaseId`, `diseaseName`.
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## Rate Limits
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No published limits. Bulk annotation files at https://hpo.jax.org/data/annotations
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