Human genes for congenital bile acid synthesis defect 1
Congenital bile acid synthesis defect 1 [DOID:0111071]
A congenital bile acid synthesis defect characterized by progressive cholestatic liver disease, giant cell hepatitis, malabsorption of fat and fat-soluble vitamins, increased serum bilirubin and decreased serum cholesterol that has_material_basis_in homozygous or compound heterozygous mutation in the HSD3B7 gene on chromosome 16p.
Synonyms: congenital bile acid synthesis defect 1, DOID:0111071, CBAS1