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congenital bile acid synthesis defect 1
Summary
- Synonym
-
- CBAS1
- Definition
- A congenital bile acid synthesis defect characterized by progressive cholestatic liver disease, giant cell hepatitis, malabsorption of fat and fat-soluble vitamins, increased serum bilirubin and decreased serum cholesterol that has_material_basis_in homozygous or compound heterozygous mutation in the HSD3B7 gene on chromosome 16p.
- Super Class
- congenital bile acid synthesis defect
External Links
- Disease Ontology
- DOID:0111071
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- GARD
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002908 | Conjugated hyperbilirubinemia |
| HP:0011985 | Acholic stools |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0001406 | Intrahepatic cholestasis |
| HP:0003623 | Neonatal onset |
| HP:0002570 | Steatorrhea |
| HP:0200084 | Giant cell hepatitis |
| HP:0003146 | Hypocholesterolemia |
| HP:0002748 | Rickets |
