ONTOLOGY REPORT - ANNOTATIONS


Term:X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia
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Accession:DOID:0080319 term browser browse the term
Definition:A T cell deficiency that is characterized by CD4 lymphopenia, severe chronic viral infections, and defective T-lymphocyte activation in males and has_material_basis_in X-linked inheritance of mutations in the gene encoding magnesium transporter-1 (MAGT1). (DO)
Synonyms:exact_synonym: XMEN
 primary_id: OMIM:300853
 alt_id: RDO:9000472
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X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Magt1 magnesium transporter 1 JBrowse link X 77,023,423 77,061,603 RGD:7240710
RGD:8554872

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  disease 14875
    disease of cellular proliferation 5577
      X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia 1
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  disease 14875
    disease of anatomical entity 14051
      Hemic and Lymphatic Diseases 1581
        hematopoietic system disease 1366
          leukocyte disease 435
            leukopenia 124
              lymphopenia 61
                X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.