About   Help   FAQ
Disease Ontology Browser
immunodeficiency 82 (DOID:0061053)
Alliance: disease page
Synonyms: immunodeficiency 82 with systemic inflammation
Alt IDs: OMIM:619381
Definition: A primary immunodeficiency disease that is characterized by recurrent infections with various organisms, as well as noninfectious inflammation manifest as lymphocytic organ infiltration with gastritis, colitis, and lung, liver, CNS, or skin disease and and that has_material_basis_in heterozygous mutation in the SYK gene on chromosome 9q22.

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, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
03/18/2025
MGI 6.24 		The Jackson Laboratory