About   Help   FAQ
Disease Ontology Browser
immunodeficiency 52 (DOID:0111983)
Alliance: disease page
Synonyms: IMD52; severe combined immunodeficiency due to LAT deficiency
Alt IDs: OMIM:617514, ORDO:504523, UMLS_CUI:C4479588
Definition: A T cell deficiency characterized by onset of severe recurrent infections in infancy and a defect in T-cell receptor signaling resulting in variable immunological disorders that has_material_basis_in homozygous or compound heterozygous mutation in LAT on chromosome 16p11.2.

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
12/10/2024
MGI 6.24 		The Jackson Laboratory