Congenital bile acid synthesis defect type 3 (Q90075)
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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 |
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| default for all languages | ID_2022512995 |
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| 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. |
