Cortexa research tool·genomics·orphanet

Orphanet Get Disease

Get detailed information about a rare disease by ORPHA code. Returns disease name, definition, synonyms, and classification. ORPHA codes are unique Orphanet identifiers (e.g., 558 for Marfan syndrome). No authentication required.

Livelast probed 2026-04-30 23:07Z· 84msCortexa

Status

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

Last probed: 1d ago
Last success: 1d ago
Last latency: 84ms

Schema

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

{
  "properties": {
    "lang": {
      "default": "en",
      "description": "Language code (default: en)",
      "type": "string"
    },
    "operation": {
      "const": "get_disease",
      "description": "Operation type (fixed: get_disease)",
      "type": "string"
    },
    "orpha_code": {
      "description": "Orphanet ORPHA code (e.g., 558, 166024). Can include ORPHA: prefix.",
      "type": [
        "string",
        "integer"
      ]
    },
    "orpha_id": {
      "description": "Alias for orpha_code (the Orphanet disease code).",
      "type": [
        "integer",
        "string"
      ]
    },
    "orphacode": {
      "description": "Alias for orpha_code (the Orphanet disease code).",
      "type": [
        "integer",
        "string"
      ]
    }
  },
  "required": [],
  "type": "object"
}

Examples (1)

Default Orphanet Get Disease call

public-safeinput

{}

Expected response keys: success

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

Identifiers

Catalog ID: tu_Orphanet_get_disease
Tool name: Orphanet_get_disease
Added: 2026-04-30 22:47Z
Tags: tooluniverse

Schema

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

{ "properties": { "lang": { "default": "en", "description": "Language code (default: en)", "type": "string" }, "operation": { "const": "get_disease", "description": "Operation type (fixed: get_disease)", "type": "string" }, "orpha_code": { "description": "Orphanet ORPHA code (e.g., 558, 166024). Can include ORPHA: prefix.", "type": [ "string", "integer" ] }, "orpha_id": { "description": "Alias for orpha_code (the Orphanet disease code).", "type": [ "integer", "string" ] }, "orphacode": { "description": "Alias for orpha_code (the Orphanet disease code).", "type": [ "integer", "string" ] } }, "required": [], "type": "object" }