OBO ID: DOID:0111071
Term Name: congenital bile acid synthesis defect 1 Search Ontology:
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
is a type of:
OTHER congenital bile acid synthesis defect 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
HSD3B7 Bile acid synthesis defect, congenital, 1 607765
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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