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: physical disorder steroid inherited metabolic disorder

physical disorder steroid inherited metabolic disorder Show first 5 Terms
has subtype: congenital bile acid synthesis defect 1 congenital bile acid synthesis defect 2 congenital bile acid synthesis defect 3 congenital bile acid synthesis defect 4 congenital bile acid synthesis defect 5 ... Show All 6 Terms

congenital bile acid synthesis defect 1 congenital bile acid synthesis defect 2 congenital bile acid synthesis defect 3 congenital bile acid synthesis defect 4 congenital bile acid synthesis defect 5 congenital bile acid synthesis defect 6 Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models

Citations