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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)
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last database update
06/23/2022
MGI 6.20
The Jackson Laboratory