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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.
Mondo Term and Equivalent IDs
MONDO:0031446:  hypercholanemia, familial 1
MESH:C564336: 
Orphanet:238475: 
SCTID:723360007: 
UMLS:C1843139: