| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes |
|---|---|---|---|---|---|---|---|
| C2675204 | Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract | disease | Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases | Disease or Syndrome | genetic disease | 1 |