congenital bile acid synthesis defect 5
Any congenital bile acid synthesis defect in which the cause of the disease is a mutation in the ABCD3 gene.
MONDO:0018841
congenital bile acid synthesis defect
is_a
MONDO:0100372
disorder of peroxisomal transporter
is_a
ABCD3 congenital bile acid synthesis defect
exact
CBAS5
exact
bile acid synthesis defect, congenital, 5
related
bile acid synthesis defect, congenital, type 5
exact
congenital bile acid synthesis defect caused by mutation in ABCD3
exact
congenital bile acid synthesis defect type 5
exact