Find Diseases by Gene
find_diseases_by_geneRetrieve rare diseases associated with an HGNC gene symbol from Orphanet. Returns Orpha code and disorder name with pagination support.
Instructions
Find all Orphanet disorders associated with an HGNC gene symbol. Returns {orpha_code, name} per disorder with pagination. Signature: find_diseases_by_gene(gene_symbol, limit=, offset=, response_mode=).
Input Schema
| Name | Required | Description | Default |
|---|---|---|---|
| limit | No | Max rows returned (default 50). | |
| offset | No | Rows to skip for forward paging (default 0). | |
| gene_symbol | Yes | HGNC gene symbol, e.g. 'KIF7' or 'HNF1B'. | |
| response_mode | No | Verbosity: minimal|compact|standard|full (default compact). | compact |
Output Schema
| Name | Required | Description | Default |
|---|---|---|---|
| hint | No | ||
| _meta | No | ||
| field | No | ||
| limit | No | ||
| total | No | ||
| offset | No | ||
| message | No | ||
| results | No | ||
| success | No | ||
| returned | No | ||
| retryable | No | ||
| truncated | No | ||
| candidates | No | ||
| error_code | No | ||
| gene_symbol | No | ||
| next_offset | No | ||
| allowed_values | No | ||
| recovery_action | No |