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Congenital bile acid synthesis defect 3
rareCongenital bile acid synthesis defect type 3 (BAS defect type 3) is a severe anomaly of bile acid synthesis characterized by severe neonatal cholestatic liver disease.
- Identifiers
- MONDO:0013439 OMIM:613812Orphanet:79302
- Causal genes
- CYP7B1
- Also known as
- BASD3 · bile acid synthesis defect, congenital, 3 · bile acid synthesis defect, congenital, type 3 · CBAS3 · congenital bile acid synthesis defect caused by mutation in CYP7B1
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