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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:0001508 | Failure to thrive |
| HP:0003623 | Neonatal onset |
| HP:0002570 | Steatorrhea |
