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inborn disorder of bile acid synthesis

Disease Summary
Associated Targets (12)
Tbio

9

Tchem

3


Mondo Description Anomalies of bile acid synthesis are a group of sterol metabolism disorders due to enzyme deficiencies of bile acid synthesis (BAS) in infants, children and adults, with variable manifestations that include cholestasis, neurological disease, and fat malabsorption. Nine inborn errors have been described, 7 of which lead to liver cholestasis.
Mondo Term and Equivalent IDs
MONDO:0019218:  inborn disorder of bile acid synthesis
Orphanet:79168: 
UMLS:CN231736: 
UMLS:CN544763: