MonarchV3 Phenotype Similarity Search
Find diseases that best match a set of phenotypes (HPO terms) using semantic similarity from the Monarch Initiative. Given a patient phenotype profile as a list of HPO IDs, returns diseases ranked by phenotype overlap score. Uses information content-based similarity (AncestorInformationContent metric). Essential for rare disease differential diagnosis: input observed phenotypes, get ranked candidate diseases. Example: [HP:0001250 (seizure), HP:0001249 (intellectual disability), HP:0002353 (EEG…
Overview
Find diseases that best match a set of phenotypes (HPO terms) using semantic similarity from the Monarch Initiative. Given a patient phenotype profile as a list of HPO IDs, returns diseases ranked by phenotype overlap score. Uses information content-based similarity (AncestorInformationContent metric). Essential for rare disease differential diagnosis: input observed phenotypes, get ranked candidate diseases. Example: [HP:0001250 (seizure), HP:0001249 (intellectual disability), HP:0002353 (EEG abnormality)] returns diseases like intellectual disability AR 31, Dravet syndrome ranked by semantic similarity score.
Schema
JSON Schema the agent (or your API call) must match.
Examples (1)
Default MonarchV3 Phenotype Similarity Search call
Anonymous-safe example. Rate-limited; no sign-in required.
Identifiers
- Catalog ID
- tu_MonarchV3_phenotype_similarity_search
- Tool name
- MonarchV3_phenotype_similarity_search
- Added
- 2026-04-30 22:47Z
- Tags
- tooluniverse