Congenital bile acid synthesis defect
| Disease Term | Disease ID | Gene Symbol | References |
|---|---|---|---|
| Bile Acid Synthesis Defect, Congenital, 3 | C3151147 | CYP7A1 | 9802883 |
| CYP7B1 | 9802883, 31337596 | ||
| BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5 | C4225390 | ABCD3 | 25168382 |
| BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6 | C4310624 | ACOX2 | 27884763, 27647924 |
| Congenital bile acid synthesis defect type 4 | 79095 | AMACR | |
| Congenital bile acid synthesis defect type 1 | 79301 | HSD3B7 | |
| Congenital bile acid synthesis defect type 3 | 79302 | CYP7B1 | |
| Congenital bile acid synthesis defect type 2 | 79303 | AKR1D1 |