| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
|---|---|---|---|---|---|---|---|---|
| C0010674 | Cystic Fibrosis | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases | Disease or Syndrome | genetic disease | 1 | 122 | |
| C0403814 | Congenital bilateral aplasia of vas deferens | disease | Male Urogenital Diseases | Congenital Abnormality | 1 | 34 |