MCP server exposing 7 tools for hpo-api.
This URL is a JSON-RPC 2.0 endpoint over HTTP. Issue POST requests with a JSON-RPC body. Browsers and search crawlers land here on GET.
POST https://gateway.pipeworx.io/hpo-api/mcp
Content-Type: application/json
{"jsonrpc":"2.0","id":1,"method":"tools/list"}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. Returns label, definition, synonyms, cross-references. Example ID: HP:0001250 (Seizure).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 (HPO). Returns ranked terms with HP: IDs. Use to map clinical descriptions to standard ontology terms for rare-disease workups, genomics, or clinical phenotype databases.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 nervous system") to specifics (seizures, ataxia, etc).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.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 descendants of HP:0001626).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-disease lookups in rare-disease research, variant prioritization. Example ID: NCBIGene:7157 (TP53).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 format). Use to enumerate clinical features of rare diseases. Example ID: OMIM:154700 (Marfan syndrome).Code samples (curl / TypeScript / one-click client install), schemas, and the live playground are on the pack page:
https://pipeworx.io/packs/hpo-api/
Pipeworx is an open MCP gateway connecting AI agents to live data. pipeworx.io