Human genes for congenital bile acid synthesis defect 5
Congenital bile acid synthesis defect 5 [DOID:0111066]
A congenital bile acid synthesis defect characterized by hepatomegaly, liver fibrosis and failure, splenomegaly, and elevated plasma levels of bile acid intermediates that has_material_basis_in homozygous mutation in the ABCD3 gene on chromosome 1p21.
Synonyms: congenital bile acid synthesis defect 5, DOID:0111066, CBAS5