Source: CLINGEN
CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes |
---|---|---|---|---|---|---|---|
C1848638 | USHER SYNDROME, TYPE IB (disorder) | disease | Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases | Disease or Syndrome | genetic disease; syndrome | 5 |