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congenital bile acid synthesis defect 2

Go to external page http://purl.obolibrary.org/obo/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. [ url:https://www.ncbi.nlm.nih.gov/pubmed/12970144 http://purl.obolibrary.org/obo/ECO_0007645 http://purl.obolibrary.org/obo/ECO_0007636 url:https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79303 url:https://www.ncbi.nlm.nih.gov/pubmed/3198770 ]

Synonyms: CBAS2 cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency

This is just here as a test because I lose it

Term information

database cross reference
  • MIM:235555
  • ORDO:79303
  • UMLS_CUI:C1856127
  • MESH:C535443
  • SNOMEDCT_US_2023_03_01:238035000
  • GARD:10045
Subsets

DO_rare_slim

acronym
CBAS2

has obo namespace

disease_ontology

id

DOID:0111069