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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 containing 40 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 chr11:119,119,328...119,156,074
Ensembl chr11:119,119,398...119,156,064 		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 chr19:25,483,070...25,581,692
Ensembl chr19:25,482,982...25,581,693 		JBrowse link
G Dock8 dedicator of cytokinesis 8 ISO CTD Direct Evidence: marker/mechanism
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		 CTD
ClinVar		 PMID:9536098 PMID:14722525 PMID:16199547 PMID:16391785 PMID:17576681 More... NCBI chr19:24,976,753...25,179,796
Ensembl chr19:24,976,898...25,179,796 		JBrowse link
G Dop1a DOP1 leucine zipper like protein A ISO ClinVar Annotator: match by term: Hyper-IgE syndrome ClinVar PMID:24698316 NCBI chr 9:86,349,194...86,436,683
Ensembl chr 9:86,349,207...86,437,976 		JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:16112032 NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797 		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 chr19:25,214,146...25,411,861
Ensembl chr19:25,214,339...25,411,860 		JBrowse link
G Pgm3 phosphoglucomutase 3 ISO ClinVar Annotator: match by term: Hyper-IgE syndrome ClinVar PMID:3500672 PMID:24698316 NCBI chr 9:86,423,997...86,453,927
Ensembl chr 9:86,436,430...86,453,895 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hyper-IgE syndrome		 CTD
ClinVar		 PMID:17881745 PMID:18591412 PMID:18602572 PMID:18706697 PMID:18978467 More... NCBI chr11:100,777,632...100,830,447
Ensembl chr11:100,775,924...100,830,366 		JBrowse link
G Zng1 Zn regulated GTPase metalloprotein activator 1 ISO ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome, autosomal recessive ClinVar PMID:33290277 NCBI chr19:24,897,280...24,939,024
Ensembl chr19:24,897,280...24,938,974 		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 Cavin1 caveolae associated 1 ISO ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1, autosomal dominant ClinVar PMID:28492532 NCBI chr11:100,847,562...100,861,443
Ensembl chr11:100,847,559...100,861,713 		JBrowse link
G Il4ra interleukin 4 receptor, alpha no_association ISO DNA:mutation:cds:p.Q576R(human) RGD PMID:9537881 RGD:11530003 NCBI chr 7:125,151,443...125,178,646
Ensembl chr 7:125,151,292...125,178,646 		JBrowse link
G Il6st interleukin 6 signal transducer ISO ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1, autosomal dominant ClinVar PMID:25741868 PMID:32207811 NCBI chr13:112,600,604...112,643,394
Ensembl chr13:112,600,604...112,646,620 		JBrowse link
G Itgb3 integrin 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 chr11:104,498,826...104,561,302
Ensembl chr11:104,498,826...104,561,302 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO
IAGP		 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:147060
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:4161105 PMID:9536098 PMID:16199547 PMID:17576681 PMID:17676033 More... RGD:6892956 NCBI chr11:100,777,632...100,830,447
Ensembl chr11:100,775,924...100,830,366 		JBrowse link
G Stat5a 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 chr11:100,750,177...100,775,995
Ensembl chr11:100,750,177...100,775,995 		JBrowse link
G Stat5b 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 chr11:100,671,557...100,741,407
Ensembl chr11:100,671,557...100,741,550 		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 containing 40 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 chr11:119,119,328...119,156,074
Ensembl chr11:119,119,398...119,156,064 		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
DNA:mutation:cds:		 OMIM
ClinVar
RGD		 PMID:9536098 PMID:14722525 PMID:16199547 PMID:16391785 PMID:17576681 More... RGD:40907054 NCBI chr19:24,976,753...25,179,796
Ensembl chr19:24,976,898...25,179,796 		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 chr19:25,214,146...25,411,861
Ensembl chr19:25,214,339...25,411,860 		JBrowse link
G Zng1 Zn regulated GTPase metalloprotein activator 1 ISO ClinVar Annotator: match by term: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE ClinVar PMID:33290277 NCBI chr19:24,897,280...24,939,024
Ensembl chr19:24,897,280...24,938,974 		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 Zfp341 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 chr 2:154,453,736...154,488,741
Ensembl chr 2:154,455,217...154,488,741 		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 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 chr13:112,600,604...112,643,394
Ensembl chr13:112,600,604...112,646,620 		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 Il6ra interleukin 6 receptor, alpha 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 3:89,776,631...89,820,503
Ensembl chr 3:89,771,366...89,820,503 		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 NCBI chr10:127,478,855...127,496,856
Ensembl chr10:127,478,855...127,496,826 		JBrowse link
immunodeficiency 35 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap1m2 adaptor protein complex AP-1, mu 2 subunit ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:28492532 NCBI chr 9:21,206,753...21,223,617
Ensembl chr 9:21,205,571...21,223,633 		JBrowse link
G Atg4d autophagy related 4D, cysteine peptidase ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:28492532 NCBI chr 9:21,176,496...21,186,133
Ensembl chr 9:21,176,589...21,189,068 		JBrowse link
G Cdc37 cell division cycle 37 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532 NCBI chr 9:21,050,727...21,061,230
Ensembl chr 9:21,044,518...21,061,278 		JBrowse link
G Cdkn2d cyclin dependent kinase inhibitor 2D ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:28492532 NCBI chr 9:21,199,759...21,202,553
Ensembl chr 9:21,199,706...21,202,703 		JBrowse link
G Dnm2 dynamin 2 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:28492532 NCBI chr 9:21,336,167...21,419,055
Ensembl chr 9:21,336,204...21,419,055 		JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532 NCBI chr 9:20,818,501...20,871,084
Ensembl chr 9:20,818,505...20,871,184 		JBrowse link
G Fdx2 ferredoxin 2 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532 NCBI chr 9:20,978,808...20,984,827
Ensembl chr 9:20,978,816...20,984,910 		JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532 NCBI chr 9:20,927,236...20,940,110
Ensembl chr 9:20,927,281...20,940,113 		JBrowse link
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 chr 9:20,940,728...20,941,892
Ensembl chr 9:20,940,669...20,941,891 		JBrowse link
G Icam5 intercellular adhesion molecule 5, telencephalin ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532 NCBI chr 9:20,943,372...20,950,331
Ensembl chr 9:20,943,369...20,950,332 		JBrowse link
G Ilf3 interleukin enhancer binding factor 3 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:28492532 NCBI chr 9:21,278,964...21,316,659
Ensembl chr 9:21,279,167...21,316,657 		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 chr 9:21,141,026...21,150,628
Ensembl chr 9:21,141,026...21,150,657 		JBrowse link
G Kri1 KRI1 homolog ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:28492532 NCBI chr 9:21,184,753...21,199,265
Ensembl chr 9:21,184,753...21,199,265 		JBrowse link
G Mir199a-1 microRNA 199a-1 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:28492532 NCBI chr 9:21,407,791...21,407,860
Ensembl chr 9:21,407,791...21,407,860 		JBrowse link
G Mrpl4 mitochondrial ribosomal protein L4 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532 NCBI chr 9:20,907,040...20,920,135
Ensembl chr 9:20,914,034...20,920,135 		JBrowse link
G Pde4a phosphodiesterase 4A, cAMP specific ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532 NCBI chr 9:21,076,998...21,124,544
Ensembl chr 9:21,073,005...21,124,544 		JBrowse link
G Qtrt1 queuine tRNA-ribosyltransferase catalytic subunit 1 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:28492532 NCBI chr 9:21,323,096...21,331,575
Ensembl chr 9:21,323,133...21,331,570 		JBrowse link
G Raver1 ribonucleoprotein, PTB-binding 1 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532 NCBI chr 9:20,985,454...21,003,295
Ensembl chr 9:20,985,454...21,003,304 		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 chr 9:20,877,248...20,888,089
Ensembl chr 9:20,873,657...20,888,077 		JBrowse link
G S1pr5 sphingosine-1-phosphate receptor 5 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:28492532 NCBI chr 9:21,154,213...21,159,739
Ensembl chr 9:21,154,208...21,159,739 		JBrowse link
G Slc44a2 solute carrier family 44, member 2 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:28492532 NCBI chr 9:21,232,015...21,266,324
Ensembl chr 9:21,231,994...21,266,324 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:14500783 PMID:16199547 PMID:17088085 PMID:17576681 More... NCBI chr 9:21,015,364...21,042,689
Ensembl chr 9:21,015,364...21,042,539 		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 chr 9:20,973,689...20,978,389
Ensembl chr 9:20,973,689...20,978,389 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16269
    syndrome 10876
      primary immunodeficiency disease 4143
        phagocyte bactericidal dysfunction 180
          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 16269
    disease of anatomical entity 15860
      Immune & Inflammatory Diseases 5377
        immune system disease 4741
          primary immunodeficiency disease 4143
            B cell deficiency 441
              selective immunoglobulin deficiency disease 74
                dysgammaglobulinemia 74
                  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