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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:A hyperimmunoglobulin syndrome that is characterized by eczema, distinct facial features, a tendency to experience bone fractures and recurrent bacterial infections of the skin and lungs. (DO)
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;   MIM:PS147060;   NCI:C3144


show annotations for term's descendants           Sort by:
hyper IgE syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCDC40 coiled-coil domain 40 molecular ruler complex subunit ISO ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome, autosomal recessive ClinVar PMID:21131974 PMID:22693285 PMID:23255504 PMID:23891469 PMID:25741868 More... NCBI chr17:74,120,483...74,187,323
Ensembl chr17:79,656,287...79,722,565 		JBrowse link
G DMRT1 doublesex and mab-3 related transcription factor 1 ISO ClinVar Annotator: match by term: Autosomal recessive hyper-IgE syndrome ClinVar PMID:28492532 NCBI chr 9:650,678...778,519
Ensembl chr 9:844,366...972,656 		JBrowse link
G DOCK8 dedicator of cytokinesis 8 ISO ClinVar Annotator: match by term: Autosomal recessive hyper-IgE syndrome | ClinVar Annotator: match by term: HIES autosomal recessive | ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome, autosomal recessive | ClinVar Annotator: match by term: Hyper-IgE syndrome ClinVar PMID:9536098 PMID:14722525 PMID:16199547 PMID:16391785 PMID:17576681 More... NCBI chr 9:6,791...256,837
Ensembl chr 9:201,156...446,910 		JBrowse link
G DOP1A DOP1 leucine zipper like protein A ISO ClinVar Annotator: match by term: Hyper-IgE syndrome ClinVar PMID:24698316 NCBI chr 6:80,964,118...81,065,351
Ensembl chr 6:84,238,657...84,339,687 		JBrowse link
G IFNG interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:16112032 NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829 		JBrowse link
G KANK1 KN motif and ankyrin repeat domains 1 ISO ClinVar Annotator: match by term: Autosomal recessive hyper-IgE syndrome | ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome, autosomal recessive ClinVar PMID:28492532 NCBI chr 9:550,713...556,230 JBrowse link
G PGM3 phosphoglucomutase 3 ISO ClinVar Annotator: match by term: Hyper-IgE syndrome ClinVar PMID:3500672 PMID:24698316 NCBI chr 6:81,062,356...81,090,215
Ensembl chr 6:84,336,092...84,364,515 		JBrowse link
G STAT3 signal transducer and activator of transcription 3 ISO ClinVar Annotator: match by term: Hyper-IgE syndrome ClinVar PMID:17881745 PMID:18591412 PMID:18602572 PMID:18706697 PMID:18978467 More... NCBI chr17:14,928,689...15,003,644
Ensembl chr17:15,152,358...15,227,067 		JBrowse link
G ZNG1A Zn regulated GTPase metalloprotein activator 1A ISO ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome, autosomal recessive ClinVar PMID:33290277
hyper IgE recurrent infection syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAVIN1 caveolae associated protein 1 ISO ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1, autosomal dominant ClinVar PMID:28492532 NCBI chr17:14,892,936...14,914,017
Ensembl chr17:15,117,091...15,139,223 		JBrowse link
G IL4R interleukin 4 receptor no_association ISO DNA:mutation:cds:p.Q576R(human) RGD PMID:9537881 RGD:11530003 Ensembl chr16:27,642,702...27,737,445 JBrowse link
G IL6ST interleukin 6 cytokine family signal transducer ISO ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1, autosomal dominant ClinVar PMID:25741868 PMID:32207811 NCBI chr 5:58,023,704...58,081,895
Ensembl chr 5:59,669,606...59,708,817 		JBrowse link
G ITGB3 integrin subunit beta 3 ISO ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1, autosomal dominant ClinVar PMID:9351872 PMID:20106508 PMID:21917754 PMID:25741868 PMID:28492532 NCBI chr17:10,134,450...10,194,596
Ensembl chr17:10,353,111...10,392,382 		JBrowse link
G LOC100988550 signal transducer and activator of transcription 5A ISO ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1, autosomal dominant ClinVar PMID:28492532 NCBI chr17:15,005,025...15,029,110
Ensembl chr17:15,228,465...15,251,783 		JBrowse link
G LOC100989105 signal transducer and activator of transcription 5B ISO ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1, autosomal dominant ClinVar PMID:28492532 NCBI chr17:15,040,303...15,116,682
Ensembl chr17:15,306,418...15,336,463 		JBrowse link
G STAT3 signal transducer and activator of transcription 3 ISO ClinVar Annotator: match by term: Autosomal Dominant Hyper IgE Syndrome | ClinVar Annotator: match by term: HYPER-IgE SYNDROME 1, AUTOSOMAL DOMINANT, WITH RECURRENT INFECTIONS | ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1, autosomal dominant | ClinVar Annotator: match by term: Job syndrome OMIM
ClinVar		 PMID:4161105 PMID:9536098 PMID:16199547 PMID:17576681 PMID:17676033 More... NCBI chr17:14,928,689...15,003,644
Ensembl chr17:15,152,358...15,227,067 		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 CCDC40 coiled-coil domain 40 molecular ruler complex subunit ISO ClinVar Annotator: match by term: HYPER-IgE SYNDROME 2, AUTOSOMAL RECESSIVE, WITH RECURRENT INFECTIONS ClinVar PMID:21131974 PMID:22693285 PMID:23255504 PMID:23891469 PMID:25741868 More... NCBI chr17:74,120,483...74,187,323
Ensembl chr17:79,656,287...79,722,565 		JBrowse link
G DOCK8 dedicator of cytokinesis 8 ISO ClinVar Annotator: match by term: DOCK8-related condition | ClinVar Annotator: match by term: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: HYPER-IgE SYNDROME 2, AUTOSOMAL RECESSIVE, WITH RECURRENT INFECTIONS OMIM
ClinVar		 PMID:9536098 PMID:14722525 PMID:16199547 PMID:16391785 PMID:17576681 More... NCBI chr 9:6,791...256,837
Ensembl chr 9:201,156...446,910 		JBrowse link
G KANK1 KN motif and ankyrin repeat domains 1 ISO ClinVar Annotator: match by term: HYPER-IgE SYNDROME 2, AUTOSOMAL RECESSIVE, WITH RECURRENT INFECTIONS ClinVar PMID:28492532 NCBI chr 9:550,713...556,230 JBrowse link
G ZNG1A Zn regulated GTPase metalloprotein activator 1A ISO ClinVar Annotator: match by term: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE ClinVar PMID:33290277
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 ISO ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 3, autosomal recessive | ClinVar Annotator: match by term: ZNF341-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29907690 PMID:29907691 NCBI chr20:30,018,348...30,079,721
Ensembl chr20:31,164,597...31,218,282 		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 ISO ClinVar Annotator: match by term: HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 4, autosomal recessive | ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 4A, autosomal dominant OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:28747427 More... NCBI chr 5:58,023,704...58,081,895
Ensembl chr 5:59,669,606...59,708,817 		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 ISO ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 5, autosomal recessive OMIM
ClinVar		 PMID:8467812 PMID:25741868 PMID:28492532 PMID:31235509 NCBI chr 1:129,761,914...129,824,386
Ensembl chr 1:133,374,078...133,433,089 		JBrowse link
Hyper-IgE Recurrent Infection Syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G STAT6 signal transducer and activator of transcription 6 ISO ClinVar Annotator: match by term: Hyper-IgE syndrome 6, autosomal dominant, with recurrent infections OMIM
ClinVar		 PMID:36884218 PMID:37316763 Ensembl chr12:32,068,679...32,085,099 JBrowse link
immunodeficiency 35 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AP1M2 adaptor related protein complex 1 subunit mu 2 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:28492532 NCBI chr19:10,124,413...10,139,396
Ensembl chr19:10,785,627...10,801,615 		JBrowse link
G ATG4D autophagy related 4D cysteine peptidase ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:28492532 NCBI chr19:10,095,768...10,105,250
Ensembl chr19:10,758,544...10,767,712 		JBrowse link
G CDC37 cell division cycle 37, HSP90 cochaperone ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532 NCBI chr19:9,942,644...9,955,112
Ensembl chr19:10,606,246...10,618,702 		JBrowse link
G CDKN2D cyclin dependent kinase inhibitor 2D ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:28492532 NCBI chr19:10,118,302...10,120,957 JBrowse link
G DNM2 dynamin 2 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:28492532 NCBI chr19:10,272,172...10,386,032
Ensembl chr19:10,933,672...11,106,478 		JBrowse link
G DNMT1 DNA methyltransferase 1 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532 NCBI chr19:9,681,847...9,745,334
Ensembl chr19:10,342,478...10,406,972 		JBrowse link
G FDX2 ferredoxin 2 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532 NCBI chr19:9,860,316...9,866,442
Ensembl chr19:10,526,287...10,532,152 		JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532 NCBI chr19:9,821,402...9,837,021
Ensembl chr19:10,484,414...10,500,605 		JBrowse link
G ICAM3 intercellular adhesion molecule 3 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532
G ICAM4 intercellular adhesion molecule 4 (Landsteiner-Wiener blood group) ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532 NCBI chr19:9,837,157...9,838,862
Ensembl chr19:10,501,005...10,502,176 		JBrowse link
G ICAM5 intercellular adhesion molecule 5 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532 NCBI chr19:9,839,821...9,847,198
Ensembl chr19:10,504,037...10,511,716 		JBrowse link
G ILF3 interleukin enhancer binding factor 3 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:28492532 NCBI chr19:10,206,636...10,244,779
Ensembl chr19:10,867,143...10,905,953 		JBrowse link
G KEAP1 kelch like ECH associated protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532 NCBI chr19:10,037,544...10,055,091
Ensembl chr19:10,701,303...10,717,604 		JBrowse link
G KRI1 KRI1 homolog ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:28492532 NCBI chr19:10,104,944...10,117,905
Ensembl chr19:10,767,384...10,780,254 		JBrowse link
G MRPL4 mitochondrial ribosomal protein L4 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532 NCBI chr19:9,802,353...9,810,433
Ensembl chr19:10,465,461...10,473,548 		JBrowse link
G PDE4A phosphodiesterase 4A ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532 NCBI chr19:9,956,019...10,020,538
Ensembl chr19:10,632,273...10,681,944 		JBrowse link
G QTRT1 queuine tRNA-ribosyltransferase catalytic subunit 1 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:28492532 NCBI chr19:10,255,479...10,267,367
Ensembl chr19:10,916,330...10,928,899 		JBrowse link
G RAVER1 ribonucleoprotein, PTB binding 1 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532 NCBI chr19:9,866,631...9,883,833
Ensembl chr19:10,532,362...10,549,142 		JBrowse link
G S1PR2 sphingosine-1-phosphate receptor 2 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532 NCBI chr19:9,771,888...9,781,944
Ensembl chr19:10,436,502...10,437,563 		JBrowse link
G S1PR5 sphingosine-1-phosphate receptor 5 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:28492532 NCBI chr19:10,064,332...10,069,999
Ensembl chr19:10,727,527...10,728,728 		JBrowse link
G SLC44A2 solute carrier family 44 member 2 (CTL2 blood group) ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:28492532 NCBI chr19:10,154,320...10,196,898
Ensembl chr19:10,815,820...10,857,693 		JBrowse link
G TYK2 tyrosine kinase 2 ISO ClinVar Annotator: match by term: Immunodeficiency 35 | ClinVar Annotator: match by term: Susceptibility to infection due to TYK2 deficiency | ClinVar Annotator: match by term: TYK2 DEFICIENCY OMIM
ClinVar		 PMID:9536098 PMID:14500783 PMID:16199547 PMID:17088085 PMID:17576681 More... NCBI chr19:9,901,612...9,932,623
Ensembl chr19:10,565,490...10,594,541 		JBrowse link
G ZGLP1 zinc finger GATA like protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532 NCBI chr19:9,855,211...9,860,326
Ensembl chr19:10,520,360...10,524,757 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15833
    syndrome 10701
      primary immunodeficiency disease 4091
        phagocyte bactericidal dysfunction 181
          hyper IgE syndrome 41
            Hyper-IgE Recurrent Infection Syndrome 5 1
            Hyper-IgE Recurrent Infection Syndrome 6 1
            hyper IgE recurrent infection syndrome 1 7
            hyper IgE recurrent infection syndrome 2 4
            hyper IgE recurrent infection syndrome 3 1
            hyper IgE recurrent infection syndrome 4 1
            immunodeficiency 35 23
Path 2
Term Annotations click to browse term
  disease 15833
    disease of anatomical entity 15489
      Immune & Inflammatory Diseases 5254
        immune system disease 4677
          primary immunodeficiency disease 4091
            B cell deficiency 444
              selective immunoglobulin deficiency disease 72
                dysgammaglobulinemia 72
                  hyperimmunoglobulin syndrome 66
                    hyper IgE syndrome 41
                      Hyper-IgE Recurrent Infection Syndrome 5 1
                      Hyper-IgE Recurrent Infection Syndrome 6 1
                      hyper IgE recurrent infection syndrome 1 7
                      hyper IgE recurrent infection syndrome 2 4
                      hyper IgE recurrent infection syndrome 3 1
                      hyper IgE recurrent infection syndrome 4 1
                      immunodeficiency 35 23
paths to the root