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| Term | congenital bile acid synthesis defect 3 | ID (Ontology) | DOID:0111070 (Human Disease) |
| 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. | ||
| Also Known As | "CBAS3" ; "oxysterol 7-alpha-hydroxylase deficiency" | ||
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physical disorder_____________________ steroid inherited metabolic disorder__| congenital bile acid synthesis defect |__congenital bile acid synthesis defect 3 |
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| Is a | congenital bile acid synthesis defect | ||
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MESH:C566340 MIM:613812 ORDO:79302 UMLS_CUI:C3151147 |
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