Get Disease
get_diseaseRead-onlyIdempotent
Retrieve a disease record from Orphanet using an ORPHAcode, disease label, or external reference. Returns definition, synonyms, cross-references, classification, and optional gene or phenotype data.
Instructions
Return an Orphanet disease record: definition, synonyms, grouped cross-references, classification parents/children, age of onset, inheritance, and disorder type. The term accepts an ORPHAcode, a label/synonym, or an external xref CURIE (resolved first). xrefs are grouped by source; any nested count is leaf rows, not groups. Pass fields=['xrefs.OMIM', ...] for a sparse projection, or include=['genes','phenotypes','prevalence','disability'] to compose a full entity in ONE call. Signature: get_disease(term, response_mode=, fields=, include=).
Input Schema
TableJSON Schema
| Name | Required | Description | Default |
|---|---|---|---|
| term | Yes | An ORPHAcode (ORPHA:166024 or 166024), a disease label/synonym, or an external xref CURIE that resolves to a single Orphanet term. | |
| fields | No | Sparse fieldset: return ONLY these top-level keys (dot into a grouped object, e.g. 'xrefs.OMIM'). Identity anchors (orpha_code, name, orphanet_version) are always included. Omit for the full payload. | |
| include | No | Compose extra association sections into the single record (any of: genes, phenotypes, prevalence, disability) so a full entity needs one call instead of a per-section fan-out. Omit for the base record only. | |
| response_mode | No | Verbosity: minimal|compact|standard|full (default compact). | compact |
Output Schema
TableJSON Schema
| Name | Required | Description | Default |
|---|---|---|---|
| hint | No | ||
| name | No | ||
| _meta | No | ||
| field | No | ||
| genes | No | ||
| xrefs | No | ||
| message | No | ||
| parents | No | ||
| subsets | No | ||
| success | No | ||
| children | No | ||
| obsolete | No | ||
| synonyms | No | ||
| retryable | No | ||
| candidates | No | ||
| definition | No | ||
| disability | No | ||
| error_code | No | ||
| match_type | No | ||
| orpha_code | No | ||
| phenotypes | No | ||
| prevalence | No | ||
| top_groupings | No | ||
| allowed_values | No | ||
| recovery_action | No | ||
| orphanet_version | No |