Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

ONTOLOGY REPORT - ANNOTATIONS


Term:hyper IgE syndrome
go back to main search page
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
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
hyper IgE syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DOCK8 dedicator of cytokinesis 8 JBrowse link 9 211,296 465,260 RGD:8554872
RGD:11554173
G DOCK8-AS1 DOCK8 antisense RNA 1 JBrowse link 9 213,457 215,750 RGD:8554872
G DOP1A DOP1 leucine zipper like protein A JBrowse link 6 83,067,666 83,171,351 RGD:8554872
G IFNG interferon gamma JBrowse link 12 68,154,768 68,159,740 RGD:11554173
G PGM3 phosphoglucomutase 3 JBrowse link 6 83,150,728 83,193,900 RGD:8554872
G STAT3 signal transducer and activator of transcription 3 JBrowse link 17 42,313,324 42,388,502 RGD:8554872
RGD:11554173
hyper IgE recurrent infection syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G IL4R interleukin 4 receptor JBrowse link 16 27,313,668 27,364,778 RGD:11530003
G STAT3 signal transducer and activator of transcription 3 JBrowse link 17 42,313,324 42,388,502 RGD:6892956
RGD:8554872
RGD:7240710
hyper IgE recurrent infection syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DOCK8 dedicator of cytokinesis 8 JBrowse link 9 211,296 465,260 RGD:7240710
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 33,731,657 33,792,269 RGD:8554872
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 55,935,095 55,994,963 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 19 10,350,528 10,380,572 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16489
    syndrome 5587
      primary immunodeficiency disease 962
        phagocyte bactericidal dysfunction 23
          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 16489
    disease of anatomical entity 15414
      Immune & Inflammatory Diseases 2983
        immune system disease 2460
          primary immunodeficiency disease 962
            B cell deficiency 86
              selective immunoglobulin deficiency disease 26
                dysgammaglobulinemia 26
                  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
paths to the root

NHLBI Logo

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