Source: ALL
| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
|---|---|---|---|---|---|---|---|---|
| C3151147 | Bile Acid Synthesis Defect, Congenital, 3 | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases | Disease or Syndrome | genetic disease; disease of metabolism | 2 | 1 |