Search Ontology:
Human Disease

congenital bile acid synthesis defect

Term ID
DOID:0050674
Synonyms
  • 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency
  • CBA
  • cholestasis with delta(4)-3-oxosteroid-5-beta-reductase deficiency
Definition
A steroid inherited metabolic disorder characterized by abnormal conversion of cholesterol into bile acids which occurs predominantly in the liver. (2)
References
  • ICD10CM:K76.8
  • ORDO:485631
Ontology
Human Disease   ( DOID:0050674 )
Relationships
is a type of
has subtype
Other Pages
Genes Involved
Zebrafish Models