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Summary Literature (0)
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 Disease Ontology (on Monarch Initiative):
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)