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DOID:0060758 - immunodeficiency with hyper-IgM type 2
Disease Ontology Definition:A hyper IgM syndrome that is characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in the AICDA gene on chromosome 12p13.
Synonyms: AID deficiency, HIGM2, activation-induced cytidine deaminase deficiency, hyper-IgM syndrome type 2,
Echinobase Genes :
MIM:605258 - immunodeficiency with hyper-igm, type 2; higm2 |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee