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DOID:6620 - X-linked hyper IgM syndrome
Disease Ontology Definition:A hyper IgM syndrome that is characterized by neutropenia and a high rate of gastrointestinal and central nervous system infections and that has_material_basis_in a mutation in the CD40LG gene on chromosome Xq26.3.
Synonyms: HIGM1, X-linked hyper-IgM immunodeficiency, XHIM, hyper-IgM immunodeficiency syndrome type 1, hyper-IgM syndrome 1, hyper-IgM syndrome type 1, hyperimmunoglobulin M syndrome, hyperimmunoglobulin M syndrome (disorder), immunodeficiency with hyper-IgM type 1,
Xenbase Genes :
MONDO:0010626 - hyper-IgM syndrome type 1 |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
hyperimmunoglobulin syndrome (is_a)