Get Disease Genes
get_disease_genesRead-onlyIdempotent
Retrieve gene-disease associations for a rare disease using ORPHAcode, label, or cross-reference. Returns gene symbol, HGNC ID, association type, and links to OMIM, Ensembl.
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
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. | |
| 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 | ||
| count | No | ||
| field | No | ||
| genes | No | ||
| message | No | ||
| success | No | ||
| retryable | No | ||
| candidates | No | ||
| error_code | No | ||
| orpha_code | No | ||
| allowed_values | No | ||
| recovery_action | No |