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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
- OMIM
- GARD
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002024 | Malabsorption |
| HP:0002239 | Gastrointestinal hemorrhage |
| HP:0002240 | Hepatomegaly |
| HP:0002910 | Elevated circulating hepatic transaminase concentration |
| HP:0006566 | Neonatal cholestatic liver disease |
| HP:0009830 | Peripheral neuropathy |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0001399 | Hepatic failure |
| HP:0001406 | Intrahepatic cholestasis |
| HP:0002014 | Diarrhea |
