FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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Term congenital bile acid synthesis defect 2 ID (Ontology) DOID:0111069 (Human Disease)
Definition 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.
Also Known As "CBAS2" ; "cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency"
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 Genes
 congenital bile acid synthesis defect 2       3
 for disease ribbon | congenital bile acid synthesis defect 2       3
 model of | congenital bile acid synthesis defect 2       3
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physical disorder_____________________
steroid inherited metabolic disorder__|
                                      congenital bile acid synthesis defect
                                       |__congenital bile acid synthesis defect 2  3 rec.
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Is a congenital bile acid synthesis defect
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Synonyms
  • "CBAS2" EXACT OMO:0003012
    "cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency" EXACT
Secondary IDs
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GARD:10045
MESH:C535443
MIM:235555
ORDO:79303
SNOMEDCT_US_2023_03_01:238035000
UMLS_CUI:C1856127