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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 1 221,257,771 221,491,889 RGD:9068941
G DOCK8-AS1 DOCK8 antisense RNA 1 JBrowse link 1 221,491,735 221,492,831 RGD:9068941
G DOP1A DOP1 leucine zipper like protein A JBrowse link 1 83,029,817 83,137,441 RGD:9068941
G IFNG interferon gamma JBrowse link 5 32,477,906 32,482,670 RGD:9068941
G PGM3 phosphoglucomutase 3 JBrowse link 1 83,003,622 83,029,392 RGD:9068941
G STAT3 signal transducer and activator of transcription 3 JBrowse link 12 20,407,316 20,471,091 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 3 19,526,343 19,576,792 RGD:9068941
G STAT3 signal transducer and activator of transcription 3 JBrowse link 12 20,407,316 20,471,091 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 1 221,257,771 221,491,889 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 17 37,223,959 37,272,263 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 16 35,101,304 35,151,832 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 2 69,157,774 69,183,555 RGD:7240710
RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12016
    syndrome 4729
      primary immunodeficiency disease 886
        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 12016
    disease of anatomical entity 11623
      Immune & Inflammatory Diseases 2610
        immune system disease 2144
          primary immunodeficiency disease 886
            B cell deficiency 70
              selective immunoglobulin deficiency disease 22
                dysgammaglobulinemia 22
                  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.