Congenital bile acid synthesis defect 6
MONDO:0015015Any congenital bile acid synthesis defect in which the cause of the disease is a mutation in the ACOX2 gene.
Also known as: ACOX2 congenital bile acid synthesis defect, CBAS6, bile acid synthesis defect, congenital, 6, bile acid synthesis defect, congenital, type 6, congenital bile acid synthesis defect caused by mutation in ACOX2, congenital bile acid synthesis defect type 6
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Inherited lipid metabolism disorder
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Inborn errors of metabolism
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Congenital bile acid synthesis defect
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