1 Child Term
| Identifier | Name | Description |
|---|---|---|
| DOID:0111068 | congenital bile acid synthesis defect 4 | A congenital bile acid synthesis defect characterized by intrahepatic cholestasis, malabsorption of fat and fat-soluble vitamins, decreased serum cholesterol, and increased levels of THCA in bile, serum and urine that has_material_basis_in homozygous mutation in the AMACR gene on chromosome 5p13. |
1 Parent Term
| Identifier | Name | Description |
|---|---|---|
| DOID:3146 | lipid metabolism disorder | An inherited metabolic disorder that involves the creation and degradation of lipids. |
