Search Ontology:
Human Disease

congenital bile acid synthesis defect 2

Term ID
DOID:0111069
Synonyms
  • CBAS2
  • cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency
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. (3)
References
Ontology
Human Disease   ( DOID:0111069 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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