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Disease Ontology Browser
immunodeficiency 27A (DOID:0111955)
Alliance: disease page
Synonyms: autosomal recessive IFNGR1 deficiency; autosomal recessive immunodeficiency 27A, mycobacteriosis; autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency; autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency; autosomal recessive MSMD due to partial IFNgammaR1 deficiency; autosomal recessive MSMD due to partial interferon gamma receptor 1 deficiency; IMD27A
Alt IDs: OMIM:209950, MESH:C535530, ORDO:319569
Definition: A primary immunodeficiency disease characterized by high circulating levels of IFNG, failure of cellular responses to IFNG, and early and often fatal mycobacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in the IFNGR1 gene on chromosome 6q23.3.

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