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DOID:0081136 - agammaglobulinemia 1
Disease Ontology Definition:An agammaglobulinemia that has_material_basis_in homozygous or compound heterozygous mutation in the mu heavy-chain gene (IGHM) on chromosome 14q32.
Synonyms:
Xenbase Genes : lrrc8a
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee