Search Ontology:
Human Disease

congenital bile acid synthesis defect 1

Term ID
DOID:0111071
Synonyms
  • CBAS1
Definition
A congenital bile acid synthesis defect characterized by progressive cholestatic liver disease, giant cell hepatitis, malabsorption of fat and fat-soluble vitamins, increased serum bilirubin and decreased serum cholesterol that has_material_basis_in homozygous or compound heterozygous mutation in the HSD3B7 gene on chromosome 16p. (2)
References
Ontology
Human Disease   ( DOID:0111071 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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