Orphadata Rare Disease Lookup
orphadata.raredisease.disease_lookupSearch Orphanet rare disease database by disease name and retrieve cross-references to major medical coding systems. Returns ORPHAcode, full disease definition, synonyms, and validated cross-references to ICD-10, ICD-11, OMIM, MONDO, MeSH, MedDRA, UMLS, and Orphanet URL. Covers 4,245+ rare diseases. Supports 12 languages (en, fr, de, es, it, pt, nl, pl, cs, tr, uk, zh). Source: Orphadata / Orphanet — CC BY 4.0, no auth, unlimited free.
Input Schema
| Name | Required | Description | Default |
|---|---|---|---|
| lang | No | Response language (default: en). Supported: en, fr, de, es, it, pt, nl, pl, cs, tr, uk, zh. | |
| name | Yes | Preferred name (or part of it) of the rare disease to search (e.g. "Marfan syndrome", "cystic fibrosis"). |
Output Schema
| Name | Required | Description | Default |
|---|---|---|---|
| error | No | Present only when the call failed. Includes error code, message, request_id, and any provider-specific extras. | |
| result | No | Tool response payload. Shape varies per tool — consult the tool description and inputSchema. May be an object, array, string, or number depending on the upstream provider response. |