| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes |
|---|---|---|---|---|---|---|---|
| C1857780 | JOUBERT SYNDROME 5 | disease | Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases | Disease or Syndrome | genetic disease; disease of anatomical entity; syndrome | 1 |