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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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:C3144;   OMIM:PS147060
For additional species annotation, visit the Alliance of Genome Resources.


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hyper IgE syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DOCK8 dedicator of cytokinesis 8 IAGP
EXP
ClinVar Annotator: match by term: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive
ClinVar Annotator: match by term: Hyper-IgE syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:9536098 PMID:14722525 PMID:16199547 PMID:16391785 PMID:17576681 More... NCBI chr 9:211,296...465,260
Ensembl chr 9:214,854...465,259
JBrowse link
G DOCK8-AS1 DOCK8 antisense RNA 1 IAGP ClinVar Annotator: match by term: Hyper-IgE syndrome
ClinVar Annotator: match by term: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive
ClinVar PMID:14722525 PMID:19776401 PMID:20226292 PMID:22476911 PMID:24797421 More... NCBI chr 9:213,457...215,750
Ensembl chr 9:212,824...215,893
JBrowse link
G DOP1A DOP1 leucine zipper like protein A IAGP ClinVar Annotator: match by term: Hyper-IgE syndrome ClinVar PMID:24698316 NCBI chr 6:83,067,671...83,171,351
Ensembl chr 6:83,067,666...83,171,350
JBrowse link
G IFNG interferon gamma EXP CTD Direct Evidence: marker/mechanism CTD PMID:16112032 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
JBrowse link
G PGM3 phosphoglucomutase 3 IAGP ClinVar Annotator: match by term: Hyper-IgE syndrome ClinVar PMID:3500672 PMID:24698316 NCBI chr 6:83,150,728...83,193,900
Ensembl chr 6:83,161,150...83,193,936
JBrowse link
G STAT3 signal transducer and activator of transcription 3 IAGP
EXP
ClinVar Annotator: match by term: Hyper-IgE syndrome
ClinVar Annotator: match by term: Hyperimmunoglobulin E syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:17881745 PMID:18591412 PMID:18602572 PMID:18706697 PMID:18978467 More... NCBI chr17:42,313,324...42,388,502
Ensembl chr17:42,313,324...42,388,540
JBrowse link
hyper IgE recurrent infection syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL4R interleukin 4 receptor no_association IAGP DNA:mutation:cds:p.Q576R(human) RGD PMID:9537881 RGD:11530003 NCBI chr16:27,313,668...27,364,778
Ensembl chr16:27,313,668...27,364,778
JBrowse link
G IL6ST interleukin 6 cytokine family signal transducer IAGP ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1, autosomal dominant ClinVar PMID:25741868 PMID:32207811 NCBI chr 5:55,935,095...55,994,963
Ensembl chr 5:55,935,095...55,995,022
JBrowse link
G STAT3 signal transducer and activator of transcription 3 IAGP ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1, autosomal dominant
ClinVar Annotator: match by term: Job syndrome
ClinVar
OMIM
PMID:4161105 PMID:9536098 PMID:17576681 PMID:17676033 PMID:17881745 More... RGD:6892956 NCBI chr17:42,313,324...42,388,502
Ensembl chr17:42,313,324...42,388,540
JBrowse link
hyper IgE recurrent infection syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DOCK8 dedicator of cytokinesis 8 IAGP DNA:mutation:cds: OMIM PMID:21763205 RGD:40907054 NCBI chr 9:211,296...465,260
Ensembl chr 9:214,854...465,259
JBrowse link
hyper IgE recurrent infection syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ZNF341 zinc finger protein 341 IAGP ClinVar Annotator: match by term: HYPER-IgE RECURRENT INFECTION SYNDROME 3, AUTOSOMAL RECESSIVE
ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 3, autosomal recessive
ClinVar
OMIM
PMID:25741868 PMID:29907690 PMID:29907691 NCBI chr20:33,731,657...33,792,269
Ensembl chr20:33,731,657...33,792,269
JBrowse link
hyper IgE recurrent infection syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL6ST interleukin 6 cytokine family signal transducer IAGP ClinVar Annotator: match by term: HYPER-IgE RECURRENT INFECTION SYNDROME 4, AUTOSOMAL RECESSIVE
ClinVar Annotator: match by term: Hyper-ige recurrent infection syndrome 4, autosomal recessive
ClinVar
OMIM
PMID:25741868 PMID:28492532 PMID:28747427 PMID:30309848 NCBI chr 5:55,935,095...55,994,963
Ensembl chr 5:55,935,095...55,995,022
JBrowse link
Hyper-IgE Recurrent Infection Syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL6R interleukin 6 receptor IAGP ClinVar Annotator: match by term: HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE
ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 5, autosomal recessive
ClinVar
OMIM
PMID:8467812 PMID:25741868 PMID:28492532 PMID:31235509 NCBI chr 1:154,405,343...154,469,450
Ensembl chr 1:154,405,193...154,469,450
JBrowse link
immunodeficiency 35 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TYK2 tyrosine kinase 2 IAGP ClinVar Annotator: match by term: Tyrosine kinase 2 deficiency
ClinVar Annotator: match by term: Immunodeficiency 35
ClinVar
OMIM
PMID:9536098 PMID:16199547 PMID:17088085 PMID:17576681 PMID:21680795 More... NCBI chr19:10,350,528...10,380,572
Ensembl chr19:10,350,529...10,380,572
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 20257
    syndrome 9132
      primary immunodeficiency disease 2644
        phagocyte bactericidal dysfunction 46
          hyper IgE syndrome 11
            Hyper-IgE Recurrent Infection Syndrome 5 1
            hyper IgE recurrent infection syndrome 1 3
            hyper IgE recurrent infection syndrome 2 1
            hyper IgE recurrent infection syndrome 3 1
            hyper IgE recurrent infection syndrome 4 1
            immunodeficiency 35 1
Path 2
Term Annotations click to browse term
  disease 20257
    disease of anatomical entity 18858
      Immune & Inflammatory Diseases 3972
        immune system disease 3377
          primary immunodeficiency disease 2644
            B cell deficiency 216
              selective immunoglobulin deficiency disease 31
                dysgammaglobulinemia 31
                  hyperimmunoglobulin syndrome 21
                    hyper IgE syndrome 11
                      Hyper-IgE Recurrent Infection Syndrome 5 1
                      hyper IgE recurrent infection syndrome 1 3
                      hyper IgE recurrent infection syndrome 2 1
                      hyper IgE recurrent infection syndrome 3 1
                      hyper IgE recurrent infection syndrome 4 1
                      immunodeficiency 35 1
paths to the root