| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
|---|---|---|---|---|---|---|---|---|
| C1853153 | JOUBERT SYNDROME 6 | disease | 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 | 47 |