HPO Get Disease Annotations
Get the full curated HPO annotation profile for a disease, keyed by a disease ID (OMIM / ORPHA / DECIPHER), from the JAX HPO network annotations. Returns three things: (1) medical_actions — MAxO curated treatments / management actions, each with TREATS / PREVENTS relations and the specific phenotypes they target; (2) categories — the disease's phenotypes grouped by body system (e.g., Cardiovascular, Nervous System, Eye), each with frequency / onset; (3) genes — the causative genes (NCBI gene ID…
Overview
Get the full curated HPO annotation profile for a disease, keyed by a disease ID (OMIM / ORPHA / DECIPHER), from the JAX HPO network annotations. Returns three things: (1) medical_actions — MAxO curated treatments / management actions, each with TREATS / PREVENTS relations and the specific phenotypes they target; (2) categories — the disease's phenotypes grouped by body system (e.g., Cardiovascular, Nervous System, Eye), each with frequency / onset; (3) genes — the causative genes (NCBI gene IDs and symbols). Use to retrieve evidence-based management options and the organ-system phenotype breakdown for a known disease. Example: OMIM:154700 (Marfan syndrome) returns 3 medical actions including MAXO:0000653 'angiotensin receptor blocker therapy' (PREVENTS/TREATS aortic root aneurysm), 13 body systems, and gene NCBIGene:2200 (FBN1). Other examples: OMIM:277900 (Wilson disease) → copper chelator / zinc therapy; OMIM:261600 (phenylketonuria) → dietary phenylalanine avoidance.
Schema
JSON Schema the agent (or your API call) must match.
Examples (1)
Default HPO Get Disease Annotations call
Anonymous-safe example. Rate-limited; no sign-in required.
Identifiers
- Catalog ID
- tu_HPO_get_disease_annotations
- Tool name
- HPO_get_disease_annotations
- Added
- 2026-07-29 18:13Z
- Tags
- tooluniverse