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Congenital bile acid synthesis defect 1

MONDO:0011906

Congenital bile acid synthesis defect type 1 (BAS defect type 1) is the most common anomaly of bile acid synthesis characterized by variable manifestations of progressive cholestatic liver disease, and fat malabsorption.

Also known as: 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency type 1, BASD1, CBAS1, HSD3B7 congenital bile acid synthesis defect, bile acid synthesis defect, congenital, type 1, congenital bile acid synthesis defect 1, congenital bile acid synthesis defect caused by mutation in HSD3B7, congenital bile acid synthesis defect type 1

1 clinical trial for this condition and its sub-types, 1 tagged with Congenital bile acid synthesis defect 1 itself.

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