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Summary Literature (0)
DOID:0070224 - progressive familial intrahepatic cholestasis 4

Disease Ontology Definition:A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the TJP2 gene on chromosome 9q21.

Synonyms: PFIC4, TJP2 deficit

Xenbase Genes : tjp2


MIM:
MIM:615878 - CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 4; PFIC4

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)