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Summary Literature (0)
DOID:0111981 - immunodeficiency 43

Disease Ontology Definition:A primary immunodeficiency disease characterized by recurrent infections, reduced serum concentrations of immunoglobulin G and albumin due to rapid degradation of these proteins, abnormal renal or liver function, and excessive gastrointestinal protein that has_material_basis_in homozygous or compound heterozygous mutation in B2M on chromosome 15q21.1.

Synonyms: B2M deficiency, IMD43, beta-2-microglobulin deficiency, hypercatabolic hypoproteinemia,

Xenbase Genes : b2m



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), primary immunodeficiency disease (is_a)