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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 89,152,456 89,379,203 RGD:7240710
RGD:9068941

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Path 1
Term Annotations click to browse term
  disease 12112
    syndrome 5264
      primary immunodeficiency disease 902
        phagocyte bactericidal dysfunction 21
          hyper IgE syndrome 9
            hyper IgE recurrent infection syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 12112
    disease of anatomical entity 11766
      Immune & Inflammatory Diseases 2646
        immune system disease 2165
          primary immunodeficiency disease 902
            B cell deficiency 73
              selective immunoglobulin deficiency disease 22
                dysgammaglobulinemia 22
                  hyperimmunoglobulin syndrome 15
                    hyper IgE syndrome 9
                      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.