Bile acid synthesis defect
| Disease Term | Disease ID | Gene Symbol | References |
|---|---|---|---|
| Bile acid synthesis defect, congenital, 2 | C1856127 | AKR1D1 | 19175828, 25304492, 12970144, 24816252, 20522910, 21185810, 15030995 |
| Bile acid synthesis defect, congenital, 4 | C1858328 | AMACR | 10655068, 12512044, 18577977 |
| C1QTNF3-AMACR | |||
| Bile acid synthesis defect, congenital, 1 | C1843116 | HSD3B7 | 12679481, 11067870, 27604308 |