| Metadata | |
|---|---|
| ID | DOID:0111070 |
| Name | congenital bile acid synthesis defect 3 |
| Definition | A 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. https://www.ncbi.nlm.nih.gov/pubmed/9802883 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
CBAS3 [EXACT] oxysterol 7-alpha-hydroxylase deficiency [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
disease has basis in some structural_variant disease has basis in some Abnormality of prenatal development or birth |