Search Ontology:
Human Disease

congenital bile acid synthesis defect 4

Term ID
DOID:0111068
Synonyms
  • CBAS4
  • intrahepatic cholestasis with defective conversion of trihydroxycoprostanic acid to cholic acid
  • trihydroxycoprostanic acid in bile
Definition
A congenital bile acid synthesis defect characterized by intrahepatic cholestasis, malabsorption of fat and fat-soluble vitamins, decreased serum cholesterol, and increased levels of THCA in bile, serum and urine that has_material_basis_in homozygous mutation in the AMACR gene on chromosome 5p13. (2)
References
  • GARD:10046
  • MESH:C535444
  • MIM:214950
  • ORDO:79095
  • UMLS_CUI:C1858328
Ontology
Human Disease   ( DOID:0111068 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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