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benign recurrent intrahepatic cholestasis type 2

Disease Summary
Associated Targets (2)
Tchem

1

Tbio

1


GARD Rare
Uniprot Description A disorder characterized by intermittent episodes of cholestasis without progression to liver failure. There is initial elevation of serum bile acids, followed by cholestatic jaundice which generally spontaneously resolves after periods of weeks to months. The cholestatic attacks vary in severity and duration. Patients are asymptomatic between episodes, both clinically and biochemically.
Disease Ontology Description A benign recurrent intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ABCB11 gene on chromosome 2q31.
Mondo Term and Equivalent IDs
MONDO:0011559:  benign recurrent intrahepatic cholestasis type 2
GARD:0010029: 
MESH:C535934: 
Orphanet:99961: