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congenital bile acid synthesis defect

Disease Summary
Associated Targets (6)
Tbio

6


Disease Ontology Description A steroid inherited metabolic disorder characterized by abnormal conversion of cholesterol into bile acids which occurs predominantly in the liver.
Mondo Term and Equivalent IDs
MONDO:0018841:  congenital bile acid synthesis defect
EFO:0009039: 
OMIMPS:607765: 
Orphanet:485631: 
UMLS:CN239183: