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progressive familial intrahepatic cholestasis

Disease Summary
Associated Targets (8)
Tbio

6

Tclin

1

Tchem

1


Explore Associated Targets
Mondo Description Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin.
Disease Ontology Description An intrahepatic cholestasis characterized by early onset of chronic unremitting cholestasis of hepatocellular origin that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood.
Mondo Term and Equivalent IDs
MONDO:0015762:  progressive familial intrahepatic cholestasis
NCIT:C84453: 
OMIMPS:211600: 
Orphanet:172: 
UMLS:C0268312: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Target Novelty (Tin-x)