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Summary Literature (0)
DOID:0070222 - progressive familial intrahepatic cholestasis 2

Disease Ontology Definition:A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ABCB11 gene on chromosome 2q31.

Synonyms: BSEP deficiency, PFIC2,

Xenbase Genes : abcb11.2

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0011156 - progressive familial intrahepatic cholestasis type 2


Other Model Organisms: AGR, 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)