Rare Disease Library

Congenital bile acid synthesis defect

BASD

Congenital bile acid synthesis defect type 1

BASD1 · 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency

Congenital bile acid synthesis defect type 2

Cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency · BASD2

Congenital bile acid synthesis defect type 3

BASD3 · Oxysterol 7-alpha-hydroxylase deficiency

Congenital bile acid synthesis defect type 4

2-methylacyl-CoA racemase deficiency · AMACR deficiency

Disorder of bile acid synthesis

Disorder of catecholamine synthesis

Disorder of fucoglycosan synthesis

Disorder of O-mannosylglycan synthesis

Disorder of O-xylosylglycan synthesis

Disorder of phospholipids, sphingolipids and fatty acids biosynthesis

Disorder of plasmalogens biosynthesis

Sterol biosynthesis disorder