Hpo Api
liveHealthBiologyScienceHuman Phenotype Ontology (HPO) API — look up phenotype terms, disease-phenotype associations, and gene-disease relationships for clinical genomics.
Tools
term"What does HP:[N] mean" / "look up HPO phenotype [ID]" — fetch a single Human Phenotype Ontology (HPO) term by ID. HPO is the standard ontology for clinical phenotypes used in rare-disease research. R
No parameters required.
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search"HPO term for [symptom]" / "phenotype code for [clinical sign]" / "find HPO IDs about [feature]" / "what's the HPO for seizures / autism / short stature" — text search the Human Phenotype Ontology (HP
No parameters required.
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term_children"More specific HPO phenotypes under [HP:N]" / "child terms of [phenotype]" — direct children of an HPO term in the ontology graph. Use to narrow from a general phenotype (e.g. "Abnormality of the nerv
No parameters required.
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term_parents"What broader phenotype is [HP:N] under" / "parent term of [HPO ID]" — direct parents of an HPO term in the ontology graph. Use to walk up to a more general phenotype class.
No parameters required.
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term_descendants"All phenotypes under [HP:N]" / "full subtree of [HPO term]" — transitive descendants (children, grandchildren, …) of an HPO term. Use for exhaustive coverage (e.g. "every cardiac phenotype" via desce
No parameters required.
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gene_diseases"What diseases is gene [NCBIGene:N] associated with" / "diseases linked to gene [X]" / "TP53 disease associations" — fetch diseases associated with a gene ID (NCBIGene:N format). Use for gene-to-disea
No parameters required.
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disease_phenotypes"What symptoms / clinical features does [disease] cause" / "HPO phenotypes for [OMIM N]" / "clinical signs of [rare disease]" — list HPO phenotype terms for a disease ID (OMIM:N, ORPHA:N, or MONDO:N f
No parameters required.
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Test with curl
The gateway speaks JSON-RPC 2.0 over HTTP POST. You can test any pack directly from the terminal.
curl -X POST https://gateway.pipeworx.io/hpo-api/mcp \
-H "Content-Type: application/json" \
-d '{"jsonrpc":"2.0","id":1,"method":"tools/list"}'curl -X POST https://gateway.pipeworx.io/hpo-api/mcp \
-H "Content-Type: application/json" \
-d '{"jsonrpc":"2.0","id":2,"method":"tools/call","params":{"name":"term","arguments":{}}}'Use with the SDK
Install @pipeworx/sdk to call tools from any TypeScript/Node project.
import { Pipeworx } from '@pipeworx/sdk';
const px = new Pipeworx();
const result = await px.call("term", {});// Or ask in plain English:
const answer = await px.ask("human phenotype ontology (hpo) api — look up phenotype terms, disease-phenotype associations, and gene-disease relationships for clinical genomics");