congenital bile acid synthesis defect 3 (Q42863603)
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congenital bile acid synthesis defect characterized by intrahepatic cholestasis, malabsorption of fat and fat-soluble vitamins, and increased serum bilirubin that has material basis in homozygous mutation in the CYP7B1 gene on chromosome 8q12
- oxysterol 7-alpha-hydroxylase deficiency
- CBAS3
- congenital bile acid synthesis defect type 3
- BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3; CBAS3
- Bile Acid Synthesis Defect, Congenital, type 3
- BASD3
- BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | congenital bile acid synthesis defect 3 |
congenital bile acid synthesis defect characterized by intrahepatic cholestasis, malabsorption of fat and fat-soluble vitamins, and increased serum bilirubin that has material basis in homozygous mutation in the CYP7B1 gene on chromosome 8q12 |
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