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ONTOLOGY REPORT - ANNOTATIONS


Term:hyper IgE syndrome
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Accession:DOID:0080545 term browser browse the term
Definition:Primary immunodeficiency syndrome characterized by recurrent infections and hyperimmunoglobulinemia E. Most cases are sporadic. Of the rare familial forms, the dominantly inherited subtype has additional connective tissue, dental and skeletal involvement that the recessive type does not share.
Synonyms:exact_synonym: HIE Syndrome;   HIE syndromes;   Hyper-IgE Syndromes;   Hyperimmunoglobulinemia E Syndrome;   Hyperimmunoglobulinemia E Syndromes;   hyper immunoglobulin E syndrome;   hyperimmunoglobulin E recurrent infection syndrome;   hyperimmunoglobulin E syndrome
 narrow_synonym: Hyper IgE Recurrent Infection Syndrome, Autosomal Recessive;   Hyper IgE Syndrome, Autosomal Recessive;   autosomal recessive HIES;   hyper immunoglobulin E syndrome, autosomal recessive;   hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive
 primary_id: MESH:D007589
 xref: GARD:10956;   NCI:C126342;   OMIM:PS147060
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hyper IgE syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dock8 dedicator of cytokinesis 8 JBrowse link 19 24,999,321 25,202,432 RGD:8554872
RGD:11554173
G Dop1a DOP1 leucine zipper like protein A JBrowse link 9 86,467,141 86,555,806 RGD:8554872
G Ifng interferon gamma JBrowse link 10 118,441,046 118,445,894 RGD:11554173
G Pgm3 phosphoglucomutase 3 JBrowse link 9 86,552,476 86,571,878 RGD:8554872
G Stat3 signal transducer and activator of transcription 3 JBrowse link 11 100,886,806 100,939,594 RGD:11554173
RGD:8554872
hyper IgE recurrent infection syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Il4ra interleukin 4 receptor, alpha JBrowse link 7 125,552,271 125,579,474 RGD:11530003
G Stat3 signal transducer and activator of transcription 3 JBrowse link 11 100,886,806 100,939,594 RGD:6892956
RGD:8554872
RGD:13592920
RGD:7240710
hyper IgE recurrent infection syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dock8 dedicator of cytokinesis 8 JBrowse link 19 24,999,321 25,202,432 RGD:7240710
hyper IgE recurrent infection syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Zfp341 zinc finger protein 341 JBrowse link 2 154,611,816 154,646,821 RGD:8554872
RGD:7240710
hyper IgE recurrent infection syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Il6st interleukin 6 signal transducer JBrowse link 13 112,464,070 112,506,860 RGD:8554872
RGD:7240710
Tyrosine Kinase 2 Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tyk2 tyrosine kinase 2 JBrowse link 9 21,104,068 21,131,393 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12617
    syndrome 4912
      primary immunodeficiency disease 926
        phagocyte bactericidal dysfunction 21
          hyper IgE syndrome 9
            Tyrosine Kinase 2 Deficiency 1
            hyper IgE recurrent infection syndrome 1 2
            hyper IgE recurrent infection syndrome 2 1
            hyper IgE recurrent infection syndrome 3 1
            hyper IgE recurrent infection syndrome 4 1
Path 2
Term Annotations click to browse term
  disease 12617
    disease of anatomical entity 12180
      Immune & Inflammatory Diseases 2737
        immune system disease 2228
          primary immunodeficiency disease 926
            B cell deficiency 78
              selective immunoglobulin deficiency disease 24
                dysgammaglobulinemia 24
                  hyperimmunoglobulin syndrome 15
                    hyper IgE syndrome 9
                      Tyrosine Kinase 2 Deficiency 1
                      hyper IgE recurrent infection syndrome 1 2
                      hyper IgE recurrent infection syndrome 2 1
                      hyper IgE recurrent infection syndrome 3 1
                      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.