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hypercholanemia, familial 1
Disease Summary
Associated Targets (3)
Tbio
2
Tchem
1
Mondo Description A very rare genetic disorder characterized clinically by elevated serum bile acid concentrations, itching, and fat malabsorption reported in patients of Old Order Amish descent.
Uniprot Description A disorder characterized by elevated serum bile acid concentrations, itching, and fat malabsorption.