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DOID:0060759 - immunodeficiency with hyper IgM type 5
Disease Ontology Definition:A hyperimmunoglobulin syndrome characterized by normal or increased serum IgM concentrations associated with low or absent serum IgG, IgA, and IgE concentrations, indicating a defect in the class-switch recombination (CSR) process that has_material_basis_in homozygous or compound heterozygous mutation in the UNG gene on chromosome 12q23-q24.1.
Synonyms: HIGM5, hyper-IgM syndrome 5, hyper-IgM syndrome due to UNG deficiency, hyper-IgM syndrome due to uracil N-glycosylase,
Echinobase Genes : ung
MIM:608106 - immunodeficiency with hyper-igm, type 5; higm5 |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
hyperimmunoglobulin syndrome (is_a)