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 (300386) on chromosome Xq26.
Synonyms: hyperimmunoglobulin M syndrome, hyperimmunoglobulin M syndrome (disorder)
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)