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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 1 89,152,456 89,379,203 RGD:9068941
G DOP1A DOP1 leucine zipper like protein A JBrowse link 12 43,477,738 43,585,482 RGD:9068941
G IFNG interferon gamma JBrowse link 10 10,406,866 10,411,698 RGD:9068941
G PGM3 phosphoglucomutase 3 JBrowse link 12 43,582,472 43,611,583 RGD:9068941
G STAT3 signal transducer and activator of transcription 3 JBrowse link 9 20,539,660 20,614,631 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 6 19,254,183 19,280,973 RGD:9068941
G STAT3 signal transducer and activator of transcription 3 JBrowse link 9 20,539,660 20,614,631 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 1 89,152,456 89,379,203 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 24 22,937,990 22,984,646 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 2 43,214,050 43,273,014 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 20 50,747,145 50,770,008 RGD:7240710
RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12065
    syndrome 4742
      primary immunodeficiency disease 886
        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 12065
    disease of anatomical entity 11668
      Immune & Inflammatory Diseases 2629
        immune system disease 2148
          primary immunodeficiency disease 886
            B cell deficiency 72
              selective immunoglobulin deficiency disease 22
                dysgammaglobulinemia 22
                  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.