X-linked hyper IgM syndrome

Summary

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 Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

:

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0010626 - hyper-IgM syndrome type 1

MONDO:0010626 - hyper-IgM syndrome type 1

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)