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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 9 201,156 446,910 RGD:9068941
G DOCK8-AS1 DOCK8 antisense RNA 1 JBrowse link 9 200,787 201,684 RGD:9068941
G DOP1A DOP1 leucine zipper like protein A JBrowse link 6 84,238,657 84,339,687 RGD:9068941
G IFNG interferon gamma JBrowse link 12 68,448,861 68,453,829 RGD:9068941
G PGM3 phosphoglucomutase 3 JBrowse link 6 84,336,092 84,364,515 RGD:9068941
G STAT3 signal transducer and activator of transcription 3 JBrowse link 17 15,152,358 15,227,084 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 16 27,686,760 27,737,445 RGD:9068941
G STAT3 signal transducer and activator of transcription 3 JBrowse link 17 15,152,358 15,227,084 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 9 201,156 446,910 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 20 31,166,374 31,218,282 RGD:9068941
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 5 59,650,833 59,708,817 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 19 10,565,490 10,596,647 RGD:7240710
RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11912
    syndrome 4700
      primary immunodeficiency disease 882
        phagocyte bactericidal dysfunction 21
          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 11912
    disease of anatomical entity 11517
      Immune & Inflammatory Diseases 2575
        immune system disease 2131
          primary immunodeficiency disease 882
            B cell deficiency 73
              selective immunoglobulin deficiency disease 23
                dysgammaglobulinemia 23
                  hyperimmunoglobulin syndrome 16
                    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.