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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 NW_004955434 4,849,147 5,050,545 RGD:9068941
G Dock8-as1 DOCK8 antisense RNA 1 JBrowse link NW_004955434 4,806,409 4,820,650 RGD:9068941
G Dop1a DOP1 leucine zipper like protein A JBrowse link NW_004955411 10,836,060 10,903,650 RGD:9068941
G Ifng interferon gamma JBrowse link NW_004955458 14,643,333 14,648,020 RGD:9068941
G Pgm3 phosphoglucomutase 3 JBrowse link NW_004955411 10,904,022 10,925,613 RGD:9068941
G Stat3 signal transducer and activator of transcription 3 JBrowse link NW_004955451 16,320,326 16,348,505 RGD:9068941
hyper IgE recurrent infection syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Il4r interleukin 4 receptor JBrowse link NW_004955493 5,546,340 5,580,745 RGD:9068941
G Stat3 signal transducer and activator of transcription 3 JBrowse link NW_004955451 16,320,326 16,348,505 RGD:7240710
RGD:9068941
hyper IgE recurrent infection syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dock8 dedicator of cytokinesis 8 JBrowse link NW_004955434 4,849,147 5,050,545 RGD:7240710
RGD:9068941
hyper IgE recurrent infection syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Znf341 zinc finger protein 341 JBrowse link NW_004955422 27,537,293 27,583,713 RGD:7240710
RGD:9068941
hyper IgE recurrent infection syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Il6st interleukin 6 signal transducer JBrowse link NW_004955446 11,790,636 11,837,734 RGD:7240710
RGD:9068941
Tyrosine Kinase 2 Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tyk2 tyrosine kinase 2 JBrowse link NW_004955495 1,618,099 1,637,996 RGD:7240710
RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11285
    syndrome 4518
      primary immunodeficiency disease 856
        phagocyte bactericidal dysfunction 22
          hyper IgE syndrome 10
            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 11285
    disease of anatomical entity 10905
      Immune & Inflammatory Diseases 2451
        immune system disease 2025
          primary immunodeficiency disease 856
            B cell deficiency 70
              selective immunoglobulin deficiency disease 21
                dysgammaglobulinemia 21
                  hyperimmunoglobulin syndrome 15
                    hyper IgE syndrome 10
                      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.