About   Help   FAQ
Disease Ontology Browser
immunodeficiency with hyper-IgM type 2 (DOID:0060758)
Alliance: disease page
Synonyms: activation-induced cytidine deaminase deficiency; AID deficiency; HIGM2; hyper-IgM syndrome type 2
Alt IDs: OMIM:605258, ICD10CM:D80.5, ORDO:101089, ORDO:183666
Definition: A hyper IgM syndrome that is characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in the AICDA gene on chromosome 12p13.


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)
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
02/18/2020
MGI 6.14
The Jackson Laboratory