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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:0001744 | Splenomegaly |
| HP:0008151 | Prolonged prothrombin time |
| HP:0002573 | Hematochezia |
| HP:0012115 | Hepatitis |
| HP:0002240 | Hepatomegaly |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0001406 | Intrahepatic cholestasis |
| HP:0011985 | Acholic stools |
| HP:0002014 | Diarrhea |
| HP:0012852 | Hepatic bridging fibrosis |
