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Summary Literature (0)
DOID:0070221 - progressive familial intrahepatic cholestasis

Disease Ontology Definition: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.

Synonyms: Byler disease, PFIC, PFIC; Byler disease

Xenbase Genes : tjp2, nr1h4, atp8b1, abcb11.2

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0015762 - progressive familial intrahepatic cholestasis


Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): intrahepatic cholestasis (is_a)