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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;   Hyperimmunoglobulin E Recurrent Infection Syndrome;   Hyperimmunoglobulinemia E Syndrome;   Hyperimmunoglobulinemia E Syndromes;   hyper immunoglobulin E 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
 alt_id: RDO:0005924
 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 C1H9orf66 chromosome 1 open reading frame, human C9orf66 JBrowse link 1 242,958,912 242,961,750 RGD:8554872
G Dock8 dedicator of cytokinesis 8 JBrowse link 1 242,934,685 243,153,472 RGD:8554872
RGD:11554173
G Dop1a DOP1 leucine zipper like protein A JBrowse link 8 94,122,733 94,225,131 RGD:8554872
G Ifng interferon gamma JBrowse link 7 61,337,383 61,341,419 RGD:11554173
G Pgm3 phosphoglucomutase 3 JBrowse link 8 94,225,513 94,243,230 RGD:8554872
G Stat3 signal transducer and activator of transcription 3 JBrowse link 10 88,790,401 88,842,263 RGD:11554173
RGD:8554872
hyper IgE recurrent infection syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Il4r interleukin 4 receptor JBrowse link 1 196,942,343 196,967,221 RGD:11530003
G Stat3 signal transducer and activator of transcription 3 JBrowse link 10 88,790,401 88,842,263 RGD:6892956
RGD:7240710
Hyper-IgE Recurrent Infection Syndrome 2, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dock8 dedicator of cytokinesis 8 JBrowse link 1 242,934,685 243,153,472 RGD:7240710
Hyper-IgE Recurrent Infection Syndrome 3, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Zfp341 zinc finger protein 341 JBrowse link 3 150,114,853 150,172,425 RGD:8554872
RGD:7240710
Hyper-IgE Recurrent Infection Syndrome 4, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Il6st interleukin 6 signal transducer JBrowse link 2 44,279,199 44,319,427 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 8 22,118,224 22,149,807 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15625
    syndrome 5162
      primary immunodeficiency disease 956
        phagocyte bactericidal dysfunction 23
          hyper IgE syndrome 10
            Hyper-IgE Recurrent Infection Syndrome 2, Autosomal Recessive 1
            Hyper-IgE Recurrent Infection Syndrome 3, Autosomal Recessive 1
            Hyper-IgE Recurrent Infection Syndrome 4, Autosomal Recessive 1
            Tyrosine Kinase 2 Deficiency 1
            hyper IgE recurrent infection syndrome 1 2
Path 2
Term Annotations click to browse term
  disease 15625
    disease of anatomical entity 14954
      Immune & Inflammatory Diseases 3099
        immune system disease 2520
          primary immunodeficiency disease 956
            B cell deficiency 77
              selective immunoglobulin deficiency disease 25
                dysgammaglobulinemia 25
                  hyperimmunoglobulin syndrome 16
                    hyper IgE syndrome 10
                      Hyper-IgE Recurrent Infection Syndrome 2, Autosomal Recessive 1
                      Hyper-IgE Recurrent Infection Syndrome 3, Autosomal Recessive 1
                      Hyper-IgE Recurrent Infection Syndrome 4, Autosomal Recessive 1
                      Tyrosine Kinase 2 Deficiency 1
                      hyper IgE recurrent infection syndrome 1 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.