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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
Download Data for inborn disorder of bile acid synthesis
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
Orphanet:79168
UMLS:CN231736
UMLS:CN544763
MONDO:0019218
High level summary of knowledge for a disease, including descriptions and datasource references.