progressive familial intrahepatic cholestasis 2

Summary

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 Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: abcb11.2

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0011156 - facial skeleton

MONDO:0011156 - facial skeleton

MIM:

MIM:601847 - CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 2; PFIC2

MIM:601847 - CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 2; PFIC2

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)