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ONTOLOGY REPORT - ANNOTATIONS


Term:hyper IgE recurrent infection syndrome 4
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Accession:DOID:0080596 term browser browse the term
Definition:A hyper IgE syndrome that has_material_basis_in homozygous mutation in the IL6ST gene on chromosome 5q11. (DO)
Synonyms:exact_synonym: HIES4;   hyper-IgE recurrent infection syndrome 4, autosomal recessive
 primary_id: OMIM:618523
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hyper IgE recurrent infection syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G IL6ST interleukin 6 signal transducer JBrowse link 2 43,214,050 43,273,014 RGD:7240710
RGD:9068941

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Path 1
Term Annotations click to browse term
  disease 12114
    syndrome 4909
      primary immunodeficiency disease 899
        phagocyte bactericidal dysfunction 21
          hyper IgE syndrome 9
            hyper IgE recurrent infection syndrome 4 1
Path 2
Term Annotations click to browse term
  disease 12114
    disease of anatomical entity 11767
      Immune & Inflammatory Diseases 2643
        immune system disease 2162
          primary immunodeficiency disease 899
            B cell deficiency 73
              selective immunoglobulin deficiency disease 22
                dysgammaglobulinemia 22
                  hyperimmunoglobulin syndrome 15
                    hyper IgE syndrome 9
                      hyper IgE recurrent infection syndrome 4 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.