@pipeworx/hpo-api

Connect: https://gateway.pipeworx.io/hpo-api/mcp · Install: one-click buttons

Tools: 7

Human Phenotype Ontology (HPO) MCP — clinical phenotype terms + gene/disease annotations. Keyless.

Tools

• term(id) — HPO term by HP id (e.g. HP:0001250)
• search(query, limit?, page?) — text search across HPO terms
• term_children(id) — direct children of a term
• term_parents(id) — direct parents of a term
• term_descendants(id) — full descendant subtree (paginated)
• gene_diseases(id) — diseases associated with a gene id (NCBIGene)
• disease_phenotypes(id) — HPO terms annotated to a disease (OMIM/ORPHA/MONDO id)

Data source

https://ontology.jax.org/api/hp/ (newer HPO REST) with fallback to https://hpo.jax.org/api/hpo/.

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
• 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
• 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
• 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 desce
• 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
• 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