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Disease Ontology Browser
X-linked hyper IgM syndrome (DOID:6620)
Alliance: disease page
Synonyms: 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
Alt IDs: OMIM:308230, MESH:D053307, NCI:C158531, ORDO:101088, UMLS_CUI:C0398689
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory