| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
|---|---|---|---|---|---|---|---|---|
| C1859570 | BARDET-BIEDL SYNDROME 12 | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases | Disease or Syndrome | genetic disease | 1 | 32 |