Get Disease Genes
get_disease_genesRetrieve gene-disease associations for a rare disorder from Orphanet, including gene symbols, HGNC IDs, and cross-references.
Instructions
Return gene-disease associations for an Orphanet disorder: gene symbol, HGNC id, association type, and cross-references (OMIM, Ensembl, etc.). count is the number of leaf gene rows, not grouped associations. Signature: get_disease_genes(term, response_mode=).
Input Schema
| Name | Required | Description | Default |
|---|---|---|---|
| term | Yes | An ORPHAcode (ORPHA:33069 or 33069), a disease label/synonym, or an external xref CURIE that resolves to a single Orphanet term. | |
| response_mode | No | Verbosity: minimal|compact|standard|full (default compact). | compact |