DO_rare_slim disease has basis in congenital bile acid synthesis defect congenital bile acid synthesis defect 2 DOID:0111069 A congenital bile acid synthesis defect characterized by rapid progession of severe cholestatic liver disease, decreased levels of chenodeoxycholic acid and cholic acid in the serum and urine, and malabsorption of fat and fat-soluble vitamins that has_material_basis_in homozygous or compound heterozygous mutation in the AKR1D1 gene on chromosome 7q33. GARD:10045 SNOMEDCT_US_2025_09_01:238035000 UMLS_CUI:C1856127 ORDO:79303 CBAS2 disease_ontology MESH:C535443 MIM:235555 cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency Abnormality of prenatal development or birth structural_variant