OBO ID: DOID:0111070
Term Name: congenital bile acid synthesis defect 3 Search Ontology:
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 congenital bile acid synthesis defect 3 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CYP7B1 Bile acid synthesis defect, congenital, 3 613812
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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