Term Name:	congenital bile acid synthesis defect 5
Synonyms:	CBAS5
Definition:	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.
Ontology:	Human Disease [DOID:0111066]   ( DOID:0111066 )