MonarchV3 Phenotype Similarity Search

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.

Status

The most recent probe succeeded. Safe to call from the agent today.

Last probed

1d ago

Last success

1d ago

Last latency

117ms

Schema

JSON Schema the agent (or your API call) must match.

{
  "properties": {
    "group": {
      "description": "Entity group to search against. Default: 'Human Diseases'. Options: 'Human Diseases', 'Mouse', 'Rat', 'Zebrafish', 'C. elegans', 'Drosophila'.",
      "type": "string"
    },
    "limit": {
      "description": "Maximum number of matching diseases to return (default: 10, max: 50).",
      "type": "integer"
    },
    "phenotypes": {
      "description": "List of HPO term CURIEs representing observed phenotypes. Examples: ['HP:0001250', 'HP:0001249', 'HP:0002353'] for seizure + intellectual disability + EEG abnormality.",
      "items": {
        "type": "string"
      },
      "type": "array"
    }
  },
  "required": [
    "phenotypes"
  ],
  "type": "object"
}

Examples (1)

{
  "limit": 3,
  "phenotypes": []
}

Identifiers

Catalog ID

tu_MonarchV3_phenotype_similarity_search

Tool name

MonarchV3_phenotype_similarity_search

Added

2026-04-30 22:47Z

Tags

tooluniverse