| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes |
|---|---|---|---|---|---|---|---|
| C0687120 | Nephronophthisis | disease | Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | Disease or Syndrome | genetic disease | Abnormality of the genitourinary system | 4 |
| C1837713 | JOUBERT SYNDROME 3 | disease | Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | Disease or Syndrome | genetic disease; disease of anatomical entity; syndrome | 1 |