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ONTOLOGY REPORT - ANNOTATIONS


Term:hyper IgE recurrent infection syndrome 1
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Accession:DOID:3261 term browser browse the term
Definition:A hyper IgE syndrome that has_material_basis_in heterozygous mutation in the STAT3 gene on chromosome 17q21. (DO)
Synonyms:exact_synonym: Buckley syndrome;   Buckley syndromes;   HIES1;   Hyper Immunoglobulin E syndrome, autosomal dominant;   Hyper-IgE Recurrent Infection Syndrome 1, Autosomal Dominant;   Hyper-IgE recurrent infection syndrome, autosomal dominant;   Hyper-IgE syndrome, autosomal dominant;   Job Buckley syndromes;   Job syndrome;   Job syndromes;   Job's syndrome;   Job-Buckley syndrome;   Jobs syndrome;   autosomal dominant HIES
 primary_id: MESH:C567925
 alt_id: OMIM:147060
 xref: GARD:10956;   GARD:6800;   NCI:C126342;   ORDO:2314
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hyper IgE recurrent infection syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Il4r interleukin 4 receptor JBrowse link 1 196,942,343 196,967,221 RGD:11530003
G Stat3 signal transducer and activator of transcription 3 JBrowse link 10 88,790,401 88,842,263 RGD:6892956
RGD:7240710

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Path 1
Term Annotations click to browse term
  disease 15619
    syndrome 5154
      primary immunodeficiency disease 957
        phagocyte bactericidal dysfunction 23
          hyper IgE syndrome 10
            hyper IgE recurrent infection syndrome 1 2
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      Immune & Inflammatory Diseases 3092
        immune system disease 2518
          primary immunodeficiency disease 957
            B cell deficiency 77
              selective immunoglobulin deficiency disease 25
                dysgammaglobulinemia 25
                  hyperimmunoglobulin syndrome 16
                    hyper IgE syndrome 10
                      hyper IgE recurrent infection syndrome 1 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.