Congenital bile acid synthesis defect type 3 (Q90075): Difference between revisions

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Latest revision as of 17:01, 15 August 2026

Congenital bile acid synthesis defect type 3 (BAS defect type 3) is a severe anomaly of bile acid synthesis characterised by severe neonatal cholestatic liver disease. It presents with severe progressive cholestasis, hepatosplenomegaly, coagulopathy, cirrhosis and liver synthetic failure from early infancy.

Language	Label	Description	Also known as
default for all languages	ID_2022512995
English	Congenital bile acid synthesis defect type 3	Congenital bile acid synthesis defect type 3 (BAS defect type 3) is a severe anomaly of bile acid synthesis characterised by severe neonatal cholestatic liver disease. It presents with severe progressive cholestasis, hepatosplenomegaly, coagulopathy, cirrhosis and liver synthetic failure from early infancy.