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ONTOLOGY REPORT - ANNOTATIONS


Term:hyper IgE recurrent infection syndrome 2
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Accession:DOID:0080594 term browser browse the term
Definition:A hyper IgE syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the DOCK8 gene on chromosome 9p24. (DO)
Synonyms:exact_synonym: HIES2;   hyper-IgE recurrent infection syndrome 2, autosomal recessive
 primary_id: OMIM:243700
 xref: GARD:2816;   ORDO:217390
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hyper IgE recurrent infection syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dock8 dedicator of cytokinesis 8 JBrowse link 1 242,934,685 243,153,472 RGD:7240710

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Term Annotations click to browse term
  disease 15602
    syndrome 5231
      primary immunodeficiency disease 983
        phagocyte bactericidal dysfunction 23
          hyper IgE syndrome 10
            hyper IgE recurrent infection syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 15602
    disease of anatomical entity 14933
      Immune & Inflammatory Diseases 3138
        immune system disease 2553
          primary immunodeficiency disease 983
            B cell deficiency 77
              selective immunoglobulin deficiency disease 25
                dysgammaglobulinemia 25
                  hyperimmunoglobulin syndrome 16
                    hyper IgE syndrome 10
                      hyper IgE recurrent infection syndrome 2 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.