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congenital bile acid synthesis defect 3
Summary
- Synonym
-
- CBAS3
- oxysterol 7-alpha-hydroxylase deficiency
- 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.
- Super Class
- congenital bile acid synthesis defect
External Links
- Disease Ontology
- DOID:0111070
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001399 | Hepatic failure |
| HP:0002904 | Hyperbilirubinemia |
| HP:0001394 | Cirrhosis |
| HP:0100508 | Abnormality of vitamin metabolism |
| HP:0001433 | Hepatosplenomegaly |
| HP:0000952 | Jaundice |
| HP:0002630 | Fat malabsorption |
| HP:0001396 | Cholestasis |
| HP:0003155 | Elevated circulating alkaline phosphatase concentration |
| HP:0001408 | Bile duct proliferation |
