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Summary Literature (0)
DOID:0070226 - progressive familial intrahepatic cholestasis 1

Disease Ontology Definition:A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ATP8B1 gene on chromosome 18q21.

Synonyms: FIC1 deficiency, PFIC1

Xenbase Genes : atp8b1


MIM:
MIM:211600 - CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 1; PFIC1

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), progressive familial intrahepatic cholestasis (is_a)