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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:hyperimmunoglobulin syndrome
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Accession:DOID:2959 term browser browse the term
Definition:A B cell deficiency that is characterized by relative predominance of certain immunoglobulin subtypes and deficiencies of others. (DO)
Synonyms:xref: NCI:C27579
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants           Sort by:
 
hyperimmunoglobulin syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aicda activation-induced cytidine deaminase susceptibility
onset		 ISO DNA:splice-site mutation:intron:IVS2+1G>T (human)
DNA:missense mutations, nonsense mutation:exon:p.W84X, p.R112C, p.R112H (human)
DNA:missense mutations:CDS:p.E58K (c.172G>A), p.C87R (c.259T>C), p.L113P (c.338T>C) (human)		 RGD PMID:11007475, PMID:15372234, PMID:11112359, PMID:17553565 RGD:1598906, RGD:11039485, RGD:11039483, RGD:11039457 NCBI chr 6:122,553,809...122,564,180
Ensembl chr 6:122,553,801...122,564,180 		JBrowse link
G Cd40 CD40 antigen ISO DNA:mutations:exons (human) RGD PMID:11675497 RGD:1599479 NCBI chr 2:165,055,614...165,071,654
Ensembl chr 2:165,055,627...165,072,948 		JBrowse link
CD40 ligand deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd40lg CD40 ligand disease_progression IDA
ISO		 ClinVar Annotator: match by term: X-linked hyper-IgM syndrome
ClinVar Annotator: match by term: Immunodeficiency with hyper IgM type 1
CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple (human)
ClinVar Annotator: match by OMIM:308230
DNA:mutations:exon, intron:multiple
DNA:missense mutation:exon:p.T169N (526T>A) (human)		 ClinVar
CTD
OMIM		 PMID:1385114 PMID:1427881 PMID:7586644 PMID:7678782 PMID:7679206 PMID:7679801 PMID:7906987 PMID:7916370 PMID:8094231 PMID:8550833 PMID:8589998 PMID:8889581 PMID:9536098 PMID:9605317 PMID:9746782 PMID:10366125 PMID:10484640 PMID:10559240 PMID:10651941 PMID:11158612 PMID:14641931 PMID:15358621 PMID:15611226 PMID:15623492 PMID:15924140 PMID:16019685 PMID:16169277 PMID:16509032 PMID:17146684 PMID:17351759 PMID:17576681 PMID:18805740 PMID:18955577 PMID:19575287 PMID:20301576 PMID:20591076 PMID:20625427 PMID:20652909 PMID:20981468 PMID:21543760 PMID:22750225 PMID:22928961 PMID:22963373 PMID:23622016 PMID:24402618 PMID:25541662 PMID:25741868 PMID:27324886 PMID:28492532 PMID:29077208, PMID:21841160, PMID:17553565, PMID:15358621, PMID:16508335 RGD:5490298, RGD:11039457, RGD:8547781, RGD:8547779 NCBI chr  X:57,212,143...57,224,042
Ensembl chr  X:57,212,143...57,224,042 		JBrowse link
Ectodermal Dysplasia and Immunodeficiency 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G6pdx glucose-6-phosphate dehydrogenase X-linked ISO ClinVar Annotator: match by term: HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH HYPOHIDROTIC ECTODERMAL DYSPLASIA ClinVar PMID:25741868 NCBI chr  X:74,409,483...74,428,880
Ensembl chr  X:74,409,483...74,429,194 		JBrowse link
G Ikbkg inhibitor of kappaB kinase gamma ISO ClinVar Annotator: match by OMIM:300291
ClinVar Annotator: match by synonym: EDA-ID
ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia with immune deficiency
DNA:mutation:splicing site:
ClinVar Annotator: match by term: HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH HYPOHIDROTIC ECTODERMAL DYSPLASIA
ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 1		 OMIM
ClinVar		 PMID:117248 PMID:8169255 PMID:11047757 PMID:11179023 PMID:11224521 PMID:11242109 PMID:11484156 PMID:11590134 PMID:12045264 PMID:14726382 PMID:15100680 PMID:15833888 PMID:16228229 PMID:16333836 PMID:16379012 PMID:16532398 PMID:16818673 PMID:16950813 PMID:17072331 PMID:17910706 PMID:18851874 PMID:19903677 PMID:21622647 PMID:24682681 PMID:25741868 PMID:26117626 PMID:29077208, PMID:16333836 RGD:12791265 NCBI chr  X:74,393,233...74,456,792
Ensembl chr  X:74,393,290...74,453,854 		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 Il4ra interleukin 4 receptor, alpha no_association ISO DNA:mutation:cds:p.Q576R(human) RGD PMID:9537881 RGD:11530003 NCBI chr 7:125,552,271...125,579,474
Ensembl chr 7:125,552,120...125,579,474 		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 chr13:112,464,070...112,506,860
Ensembl chr13:112,464,070...112,510,086 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO
IEA		 ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1, autosomal dominant
ClinVar Annotator: match by term: Job syndrome
OMIM:147060		 ClinVar
MouseDO
OMIM		 PMID:4161105 PMID:9536098 PMID:17576681 PMID:17676033 PMID:17881745 PMID:17942886 PMID:18591410 PMID:18591412 PMID:18602572 PMID:18706697 PMID:18978467 PMID:19577286 PMID:20032313 PMID:20048285 PMID:20159255 PMID:20301786 PMID:20816194 PMID:21107604 PMID:21288777 PMID:21324546 PMID:21690253 PMID:21792878 PMID:22030463 PMID:22084479 PMID:22581330 PMID:22591296 PMID:22751495 PMID:23342295 PMID:23584561 PMID:23584591 PMID:23659370 PMID:23830147 PMID:24033266 PMID:24452316 PMID:24627079 PMID:24995504 PMID:25038750 PMID:25359994 PMID:25543043 PMID:25741868 PMID:25873174 PMID:26384563 PMID:26702067 PMID:26743515 PMID:27091139 PMID:27226025 PMID:27302695 PMID:27379089 PMID:27799162 PMID:27980540 PMID:28098554 PMID:28166811 PMID:28197791 PMID:28253502 PMID:28315006 PMID:28492532 PMID:28579554 PMID:28587312 PMID:28977911 PMID:29077208 PMID:29162862 PMID:29296824 PMID:29330115 PMID:29868029 PMID:30940614, PMID:17676033 RGD:6892956 NCBI chr11:100,886,806...100,939,594
Ensembl chr11:100,885,098...100,939,540 		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 ISO DNA:mutation:cds: OMIM PMID:21763205 RGD:40907054 NCBI chr19:24,999,321...25,202,432
Ensembl chr19:24,999,534...25,202,432 		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: Hyper-IgE recurrent infection syndrome 3, autosomal recessive		 ClinVar
OMIM		 PMID:25741868 PMID:29907690 PMID:29907691 NCBI chr 2:154,611,816...154,646,821
Ensembl chr 2:154,613,297...154,646,821 		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 4, AUTOSOMAL RECESSIVE
ClinVar Annotator: match by term: Hyper-ige recurrent infection syndrome 4, autosomal recessive		 ClinVar
OMIM		 PMID:25741868 PMID:28747427 PMID:30309848 NCBI chr13:112,464,070...112,506,860
Ensembl chr13:112,464,070...112,510,086 		JBrowse link
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 ISO ClinVar Annotator: match by OMIM:243700
ClinVar Annotator: match by term: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hyper-IgE syndrome		 ClinVar
CTD		 PMID:9536098 PMID:14722525 PMID:16391785 PMID:17576681 PMID:18060736 PMID:19776401 PMID:20226292 PMID:22476911 PMID:24033266 PMID:24797421 PMID:25640679 PMID:25724123 PMID:25741868 PMID:26046366 PMID:26573532 PMID:26680607 PMID:26744459 PMID:27379089 PMID:27872624 PMID:27890707 PMID:27980540 PMID:28492532 PMID:28750028 PMID:29483666 PMID:29867916 PMID:31596517 NCBI chr19:24,999,321...25,202,432
Ensembl chr19:24,999,534...25,202,432 		JBrowse link
G Dop1a DOP1 leucine zipper like protein A ISO ClinVar Annotator: match by term: Hyper-IgE syndrome ClinVar PMID:24698316 NCBI chr 9:86,467,141...86,555,806
Ensembl chr 9:86,467,154...86,555,923 		JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:16112032 NCBI chr10:118,441,046...118,445,894
Ensembl chr10:118,441,046...118,445,892 		JBrowse link
G Pgm3 phosphoglucomutase 3 ISO ClinVar Annotator: match by term: Hyper-IgE syndrome ClinVar PMID:3500672 PMID:24698316 NCBI chr 9:86,552,476...86,571,878
Ensembl chr 9:86,554,377...86,571,842 		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
ClinVar Annotator: match by term: Hyperimmunoglobulin E syndrome		 CTD
ClinVar		 PMID:17881745 PMID:18591412 PMID:18602572 PMID:18706697 PMID:18978467 PMID:20032313 PMID:20159255 PMID:20301786 PMID:20816194 PMID:21792878 PMID:22751495 PMID:24033266 PMID:25038750 PMID:25741868 PMID:26384563 PMID:27226025 PMID:27799162 PMID:27980540 PMID:28098554 PMID:28315006 PMID:28492532 PMID:29077208 PMID:29868029 NCBI chr11:100,886,806...100,939,594
Ensembl chr11:100,885,098...100,939,540 		JBrowse link
hyper IgM syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aicda activation-induced cytidine deaminase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Immunodeficiency with Hyper-IgM		 CTD
ClinVar		 PMID:24033266 PMID:28492532 NCBI chr 6:122,553,809...122,564,180
Ensembl chr 6:122,553,801...122,564,180 		JBrowse link
G Cd40 CD40 antigen ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Immunodeficiency with Hyper-IgM		 CTD
ClinVar		 NCBI chr 2:165,055,614...165,071,654
Ensembl chr 2:165,055,627...165,072,948 		JBrowse link
G Cd40lg CD40 ligand ISO ClinVar Annotator: match by term: Hyper IgM syndrome ClinVar PMID:9746782 PMID:10484640 PMID:15358621 PMID:17351759 PMID:19575287 PMID:20301576 PMID:24402618 PMID:25541662 PMID:28492532 NCBI chr  X:57,212,143...57,224,042
Ensembl chr  X:57,212,143...57,224,042 		JBrowse link
G Ung uracil DNA glycosylase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Immunodeficiency with Hyper-IgM		 CTD
ClinVar		 NCBI chr 5:114,130,366...114,139,321
Ensembl chr 5:114,130,386...114,139,323 		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 ClinVar
OMIM		 PMID:31235509 NCBI chr 3:89,869,324...89,913,196
Ensembl chr 3:89,864,059...89,913,196 		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 ISO ClinVar Annotator: match by term: Tyrosine kinase 2 deficiency
ClinVar Annotator: match by OMIM:611521		 OMIM
ClinVar		 PMID:9536098 PMID:17088085 PMID:17576681 PMID:21680795 PMID:22402565 PMID:24033266 PMID:25388448 PMID:25741868 PMID:25849893 PMID:26288847 PMID:26304966 PMID:27872624 PMID:28492532 PMID:29725107 PMID:31118190 NCBI chr 9:21,104,068...21,131,393
Ensembl chr 9:21,104,068...21,131,243 		JBrowse link
immunodeficiency with hyper IgM type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd40 CD40 antigen ISO ClinVar Annotator: match by term: Immunodeficiency with hyper IgM type 3
ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 3		 ClinVar
OMIM		 PMID:11675497 PMID:12584544 PMID:12593727 PMID:14611700 PMID:15272925 PMID:15307939 PMID:15731360 PMID:17344890 PMID:17949264 PMID:18446002 PMID:20702779 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 2:165,055,614...165,071,654
Ensembl chr 2:165,055,627...165,072,948 		JBrowse link
immunodeficiency with hyper IgM type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acacb acetyl-Coenzyme A carboxylase beta ISO ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 5 ClinVar PMID:28492532 NCBI chr 5:114,146,321...114,250,761
Ensembl chr 5:114,146,535...114,250,761 		JBrowse link
G Ung uracil DNA glycosylase ISO ClinVar Annotator: match by term: Immunodeficiency with hyper IgM type 5
ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 5		 ClinVar
OMIM		 PMID:12958596 PMID:15967827 PMID:17029639 PMID:21167187 PMID:22252118 PMID:22521144 PMID:23545420 PMID:25741868 PMID:28492532 NCBI chr 5:114,130,366...114,139,321
Ensembl chr 5:114,130,386...114,139,323 		JBrowse link
immunodeficiency with hyper-IgM type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aicda activation-induced cytidine deaminase ISO ClinVar Annotator: match by term: Immunodeficiency with hyper IgM type 2
ClinVar Annotator: match by term: Hyper-IgM syndrome type 2		 ClinVar
OMIM		 PMID:9536098 PMID:11007475 PMID:12910268 PMID:14769937 PMID:14962793 PMID:15358621 PMID:15893695 PMID:16964591 PMID:17560278 PMID:17576681 PMID:20652909 PMID:21192628 PMID:22715099 PMID:24033266 PMID:24349193 PMID:24591601 PMID:25025377 PMID:25064858 PMID:25741868 PMID:26551569 PMID:27577878 PMID:28492532 NCBI chr 6:122,553,809...122,564,180
Ensembl chr 6:122,553,801...122,564,180 		JBrowse link
G Clec4d C-type lectin domain family 4, member d ISO ClinVar Annotator: match by term: Hyper-IgM syndrome type 2 ClinVar PMID:16964591 PMID:28492532 NCBI chr 6:123,262,107...123,275,268
Ensembl chr 6:123,262,111...123,275,265 		JBrowse link
G Clec4e C-type lectin domain family 4, member e ISO ClinVar Annotator: match by term: Hyper-IgM syndrome type 2 ClinVar PMID:16964591 PMID:28492532 NCBI chr 6:123,281,789...123,289,871
Ensembl chr 6:123,281,789...123,289,870 		JBrowse link
G Clec4n C-type lectin domain family 4, member n ISO ClinVar Annotator: match by term: Hyper-IgM syndrome type 2 ClinVar PMID:16964591 PMID:28492532 NCBI chr 6:123,229,843...123,247,024
Ensembl chr 6:123,229,843...123,247,021 		JBrowse link
X-linked hyper IgM syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd40lg CD40 ligand ISO ClinVar Annotator: match by term: X-linked hyper-IgM syndrome
ClinVar Annotator: match by term: Hyperimmunoglobulin M syndrome		 ClinVar PMID:1385114 PMID:1427881 PMID:7586644 PMID:7678782 PMID:7679206 PMID:7679801 PMID:7906987 PMID:7916370 PMID:8094231 PMID:8550833 PMID:8589998 PMID:8889581 PMID:9536098 PMID:9605317 PMID:9746782 PMID:10366125 PMID:10484640 PMID:10559240 PMID:10651941 PMID:11158612 PMID:14641931 PMID:15358621 PMID:15623492 PMID:15924140 PMID:16019685 PMID:16169277 PMID:16509032 PMID:17146684 PMID:17351759 PMID:17576681 PMID:18805740 PMID:18955577 PMID:19575287 PMID:20301576 PMID:20591076 PMID:20625427 PMID:20652909 PMID:20981468 PMID:21543760 PMID:22750225 PMID:22928961 PMID:22963373 PMID:23622016 PMID:24402618 PMID:25541662 PMID:25741868 PMID:27189378 PMID:27324886 PMID:28492532 PMID:29077208 NCBI chr  X:57,212,143...57,224,042
Ensembl chr  X:57,212,143...57,224,042 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14269
    syndrome 7099
      primary immunodeficiency disease 2219
        B cell deficiency 184
          hyperimmunoglobulin syndrome 20
            CD40 ligand deficiency + 3
            hyper IgE syndrome + 10
            hyper IgM syndrome + 8
Path 2
Term Annotations click to browse term
  disease 14269
    disease of anatomical entity 13873
      Immune & Inflammatory Diseases 3305
        immune system disease 2746
          primary immunodeficiency disease 2219
            B cell deficiency 184
              selective immunoglobulin deficiency disease 29
                dysgammaglobulinemia 29
                  hyperimmunoglobulin syndrome 20
                    CD40 ligand deficiency + 3
                    hyper IgE syndrome + 10
                    hyper IgM syndrome + 8
paths to the root