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Disease Ontology Browser
immunodeficiency 32A (DOID:0111986)
Alliance: disease page
Synonyms: IMD32A; immunodeficiency 32A, mycobacteriosis, autosomal dominant; Mendelian susceptibility to mycobacterial diseases due to partial interferon regulatory factor 8 deficiency; Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency; MSMD due to partial interferon regulatory factor 8 deficiency; MSMD due to partial IRF8 deficiency
Alt IDs: OMIM:614893, ORDO:319600, UMLS_CUI:C3808589
Definition: A dendritic cell deficiency characterized by marked loss of CD11C-positive/CD1C dendritic cells and increased susceptibility to mycobacterial infections that has_material_basis_in heterozygous mutation in the IRF8 gene on chromosome 16q24.1.

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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11/12/2024
MGI 6.24 		The Jackson Laboratory