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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:0001744 | Splenomegaly |
| HP:0009830 | Peripheral neuropathy |
| HP:0000989 | Pruritus |
| HP:0002239 | Gastrointestinal hemorrhage |
| HP:0000939 | Osteoporosis |
| HP:0001928 | Abnormality of coagulation |
| HP:0002910 | Elevated circulating hepatic transaminase concentration |
| HP:0001394 | Cirrhosis |
| HP:0000662 | Nyctalopia |
| HP:0001892 | Abnormal bleeding |
