Cortexa research tool·genomics·medgen

MedGen Search Conditions

Search NCBI MedGen for genetic conditions, diseases, or syndromes by keyword. Returns condition names, definitions, OMIM IDs, and associated genes. MedGen aggregates data from OMIM, Orphanet, ClinVar, HPO, GTR, and GeneReviews. Example: query='cystic fibrosis' returns CF entry with CFTR gene, OMIM 219700.

Livelast probed 2026-04-30 23:07Z· 114msCortexa

Status

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

Last probed: 1d ago
Last success: 1d ago
Last latency: 114ms

Schema

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

{
  "properties": {
    "max_results": {
      "default": 10,
      "description": "Maximum number of results (default 10, max 50).",
      "type": "integer"
    },
    "query": {
      "description": "Search term (e.g., 'cystic fibrosis', 'BRCA1', 'Marfan syndrome', 'autosomal recessive').",
      "type": "string"
    }
  },
  "required": [
    "query"
  ],
  "type": "object"
}

Examples (1)

Default MedGen Search Conditions call

public-safeinput

{
  "max_results": 1,
  "query": "BRCA1"
}

Expected response keys: success

Anonymous-safe example. Rate-limited; no sign-in required.

Identifiers

Catalog ID: tu_MedGen_search_conditions
Tool name: MedGen_search_conditions
Added: 2026-04-30 22:47Z
Tags: tooluniverse

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