Search Ontology:
Human Disease

congenital bile acid synthesis defect 6

Term ID
DOID:0111067
Synonyms
  • CBAS6
Definition
A congenital bile acid synthesis defect characterized by increased liver enzymes, decreased cholesterol, and increased serum and urine levels of bile acid intermediates that has_material_basis_in homozygous mutation in the ACOX2 gene on chromosome 3p14. (2)
References
Ontology
Human Disease   ( DOID:0111067 )
Relationships
is a type of
inverse disjoint_from
Other Pages
Genes Involved
Zebrafish Models