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Metadata
ID DOID:0111069
Name congenital bile acid synthesis defect 2
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.
https://www.ncbi.nlm.nih.gov/pubmed/12970144, https://www.ncbi.nlm.nih.gov/pubmed/3198770, https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79303
Xrefs

GARD:10045

MESH:C535443

MIM:235555

ORDO:79303

SNOMEDCT_US_2023_03_01:238035000

UMLS_CUI:C1856127

Subsets

DO_rare_slim

Synonyms

CBAS2 [EXACT]

cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency [EXACT]

Parent Relationships

is_a congenital bile acid synthesis defect

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