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progressive familial intrahepatic cholestasis
Disease Summary
Associated Targets (9)
Tbio
6
Tclin
2
Tchem
1
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.
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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.
Description from Disease Ontology
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0070221
NCIT:C84453
OMIMPS:211600
Orphanet:172
UMLS:C0268312
MONDO:0015762
High level summary of knowledge for a disease, including descriptions and datasource references.