congenital bile acid synthesis defect 6
Any congenital bile acid synthesis defect in which the cause of the disease is a mutation in the ACOX2 gene.
MONDO:0018841
congenital bile acid synthesis defect
is_a
ACOX2 congenital bile acid synthesis defect
exact
CBAS6
exact
bile acid synthesis defect, congenital, 6
exact
bile acid synthesis defect, congenital, type 6
exact
congenital bile acid synthesis defect caused by mutation in ACOX2
exact
congenital bile acid synthesis defect type 6
exact