Search Ontology:
Human Disease

congenital bile acid synthesis defect 3

Term ID
DOID:0111070
Synonyms
  • CBAS3
  • oxysterol 7-alpha-hydroxylase deficiency
Definition
A congenital bile acid synthesis defect characterized by intrahepatic cholestasis, malabsorption of fat and fat-soluble vitamins, and increased serum bilirubin that has_material_basis_in homozygous mutation in the CYP7B1 gene on chromosome 8q12. https://www.ncbi.nlm.nih.gov/pubmed/9802883
References
Ontology
Human Disease   ( DOID:0111070 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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