Cortexa research tool·genomics·orphanet

Orphanet Search By Name

Search for rare diseases by exact or partial name match in Orphanet. More precise than keyword search. Returns ORPHA codes and disease names. Supports exact matching mode for disambiguation.

Livelast probed 2026-04-30 23:07Z· 93msCortexa

Status

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

Last probed: 1d ago
Last success: 1d ago
Last latency: 93ms

Schema

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

{
  "properties": {
    "exact": {
      "default": false,
      "description": "If true, match exact name only. Default: false",
      "type": "boolean"
    },
    "lang": {
      "default": "en",
      "description": "Language code (default: en)",
      "type": "string"
    },
    "limit": {
      "description": "Maximum number of results to return (default: 20, max: 200)",
      "type": "integer"
    },
    "name": {
      "description": "Disease name to search (e.g., 'Marfan syndrome')",
      "type": "string"
    },
    "operation": {
      "const": "search_by_name",
      "description": "Operation type (fixed: search_by_name)",
      "type": "string"
    },
    "query": {
      "description": "Alias for name. Disease name to search for in Orphanet.",
      "type": "string"
    }
  },
  "required": [],
  "type": "object"
}

Examples (1)

Default Orphanet Search By Name call

public-safeinput

{
  "exact": false,
  "limit": 3,
  "query": "BRCA1"
}

Expected response keys: success

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

Identifiers

Catalog ID: tu_Orphanet_search_by_name
Tool name: Orphanet_search_by_name
Added: 2026-04-30 22:47Z
Tags: tooluniverse

Schema

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

{ "properties": { "exact": { "default": false, "description": "If true, match exact name only. Default: false", "type": "boolean" }, "lang": { "default": "en", "description": "Language code (default: en)", "type": "string" }, "limit": { "description": "Maximum number of results to return (default: 20, max: 200)", "type": "integer" }, "name": { "description": "Disease name to search (e.g., 'Marfan syndrome')", "type": "string" }, "operation": { "const": "search_by_name", "description": "Operation type (fixed: search_by_name)", "type": "string" }, "query": { "description": "Alias for name. Disease name to search for in Orphanet.", "type": "string" } }, "required": [], "type": "object" }