DISEASE NAME | Ocular albinism with congenital sensorineural deafness |
DISEASE CATEGORY (ICD10) | Endocrine, nutritional and metabolic diseases |
DISEASE ID (ICD10) | E70.3 |
DISEASE ID (OMIM) | 103470 |
2 combinations linked to 352740 | OLI398; OLI399 |
1 gene combination linked to 352740 | MITF; TYR |
ORPHANET ID | 352740 |