| 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 |
SNOMEDCT_US_2023_03_01:238035000 |
| Subsets |
DO_rare_slim |
| Synonyms |
CBAS2 [EXACT] cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency [EXACT] |
| Parent Relationships |