Cortexa research tool·genomics·medgen

MedGen Get Condition

Get detailed information about a specific genetic condition from NCBI MedGen by UID or UMLS CUI. Returns full definition, associated genes, OMIM IDs, synonyms, modes of inheritance, and clinical features (HPO phenotypes). Example: uid='41393' returns cystic fibrosis with CFTR/TGFB1/FCGR2A genes, autosomal recessive inheritance, 30+ clinical features.

Livelast probed 2026-04-30 23:07Z· 77msCortexa

Status

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

Last probed: 1d ago
Last success: 1d ago
Last latency: 77ms

Schema

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

{
  "properties": {
    "concept_id": {
      "description": "Alias for cui. UMLS CUI identifier (e.g., \"C0017205\" for Gaucher disease).",
      "type": [
        "string",
        "null"
      ]
    },
    "cui": {
      "description": "UMLS Concept Unique Identifier (e.g., 'C0010674' for cystic fibrosis). Alternative to uid.",
      "type": "string"
    },
    "uid": {
      "description": "MedGen UID (e.g., '41393' for cystic fibrosis). Get from MedGen_search_conditions.",
      "type": "string"
    }
  },
  "required": [],
  "type": "object"
}

Examples (1)

Default MedGen Get Condition call

public-safeinput

{}

Expected response keys: success

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

Identifiers

Catalog ID: tu_MedGen_get_condition
Tool name: MedGen_get_condition
Added: 2026-04-30 22:47Z
Tags: tooluniverse

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