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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_004936503 4,362,573 4,575,307 RGD:9068941
G Dop1a DOP1 leucine zipper like protein A JBrowse link NW_004936510 7,609,941 7,715,013 RGD:9068941
G Ifng interferon gamma JBrowse link NW_004936545 6,139,130 6,144,543 RGD:9068941
G Pgm3 phosphoglucomutase 3 JBrowse link NW_004936510 7,586,817 7,622,586 RGD:9068941
G Stat3 signal transducer and activator of transcription 3 JBrowse link NW_004936490 17,119,189 17,178,402 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_004936501 11,025,590 11,058,807 RGD:9068941
G Stat3 signal transducer and activator of transcription 3 JBrowse link NW_004936490 17,119,189 17,178,402 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_004936503 4,362,573 4,575,307 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_004936561 6,816,349 6,851,609 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_004936480 11,867,573 11,913,563 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_004936659 681,463 704,484 RGD:7240710
RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11417
    syndrome 4542
      primary immunodeficiency disease 850
        phagocyte bactericidal dysfunction 20
          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 11417
    disease of anatomical entity 11086
      Immune & Inflammatory Diseases 2481
        immune system disease 2057
          primary immunodeficiency disease 850
            B cell deficiency 68
              selective immunoglobulin deficiency disease 21
                dysgammaglobulinemia 21
                  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
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.