|
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: hyperimmunoglobulin M syndrome, hyperimmunoglobulin M syndrome (disorder), HIGM1, hyper-IgM immunodeficiency syndrome type 1, hyper-IgM syndrome 1, hyper-IgM syndrome type 1, immunodeficiency with hyper-IgM type 1, X-linked hyper-IgM immunodeficiency, XHIM
Echinobase Genes
:
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
hyper IgM syndrome (is_a),
hyperimmunoglobulin syndrome (is_a),
X-linked recessive disease (is_a)