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DOID:0081156 - common variable immunodeficiency 14
Disease Ontology Definition:A common variable immunodeficiency that has_material_basis_in heterozygous mutation in the IRF2BP2 gene on chromosome 1q42.
Synonyms:
Xenbase Genes : irf2bp2
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee