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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:missense mutations:CDS:p.E58K (c.172G>A), p.C87R (c.259T>C), p.L113P (c.338T>C) (human)
DNA:missense mutations, nonsense mutation:exon:p.W84X, p.R112C, p.R112H (human)
DNA:splice-site mutation:intron:IVS2+1G>T (human)
RGD PMID:11007475 PMID:11112359 PMID:15372234 PMID:17553565 RGD:11039457 RGD:11039483 RGD:11039485 RGD:1598906 NCBI chr 5:62,777,236...62,787,342
Ensembl chr 5:62,777,352...62,787,483
JBrowse link
G CD40 CD40 molecule ISO DNA:mutations:exons (human) RGD PMID:11675497 RGD:1599479 NCBI chr17:48,286,116...48,298,188
Ensembl chr17:48,286,029...48,298,528
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 ISO OMIM
RGD
PMID:21841160 RGD:5490298 NCBI chr  X:111,778,666...111,788,901
Ensembl chr  X:111,778,493...111,789,711
JBrowse link
Ectodermal Dysplasia and Immunodeficiency 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G6PD glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH HYPOHIDROTIC ECTODERMAL DYSPLASIA ClinVar PMID:25741868 NCBI chr  X:125,029,147...125,041,040
Ensembl chr  X:125,025,257...125,041,033
JBrowse link
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO OMIM NCBI chr  X:125,035,575...125,056,445
Ensembl chr  X:125,036,508...125,056,453
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 ISO DNA:mutation:cds:p.Q576R(human) RGD PMID:9537881 RGD:11530003 NCBI chr 3:19,526,343...19,576,792
Ensembl chr 3:19,523,564...19,576,544
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 chr16:35,101,304...35,151,832
Ensembl chr16:35,101,304...35,211,982
JBrowse link
G STAT3 signal transducer and activator of transcription 3 ISO OMIM NCBI chr12:20,407,316...20,471,091
Ensembl chr12:20,407,233...20,472,993
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 OMIM NCBI chr 1:221,257,771...221,491,889
Ensembl chr 1:221,256,009...221,491,953
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 ISO OMIM NCBI chr17:37,223,959...37,272,263
Ensembl chr17:37,224,029...37,280,118
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 OMIM NCBI chr16:35,101,304...35,151,832
Ensembl chr16:35,101,304...35,211,982
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive
ClinVar Annotator: match by term: Hyper-IgE syndrome
CTD
ClinVar
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 chr 1:221,257,771...221,491,889
Ensembl chr 1:221,256,009...221,491,953
JBrowse link
G DOCK8-AS1 DOCK8 antisense RNA 1 ISO ClinVar Annotator: match by term: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive
ClinVar Annotator: match by term: Hyper-IgE syndrome
ClinVar PMID:20226292 PMID:22476911 PMID:25724123 PMID:25741868 PMID:26680607 PMID:27980540 PMID:28492532 NCBI chr 1:221,491,735...221,492,831 JBrowse link
G DOP1A DOP1 leucine zipper like protein A ISO ClinVar Annotator: match by term: Hyper-IgE syndrome ClinVar PMID:24698316 NCBI chr 1:83,029,817...83,137,441
Ensembl chr 1:83,026,494...83,137,427
JBrowse link
G IFNG interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:16112032 NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,848...32,482,752
JBrowse link
G PGM3 phosphoglucomutase 3 ISO ClinVar Annotator: match by term: Hyper-IgE syndrome ClinVar PMID:3500672 PMID:24698316 NCBI chr 1:83,003,622...83,029,392
Ensembl chr 1:83,003,655...83,029,899
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 chr12:20,407,316...20,471,091
Ensembl chr12:20,407,233...20,472,993
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 5:62,777,236...62,787,342
Ensembl chr 5:62,777,352...62,787,483
JBrowse link
G CD40 CD40 molecule ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Immunodeficiency with Hyper-IgM
CTD
ClinVar
NCBI chr17:48,286,116...48,298,188
Ensembl chr17:48,286,029...48,298,528
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:111,778,666...111,788,901
Ensembl chr  X:111,778,493...111,789,711
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 chr14:41,746,498...41,757,841
Ensembl chr14:41,746,501...41,757,862
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 OMIM NCBI chr 4:95,322,426...95,381,393
Ensembl chr 4:95,322,426...95,381,282
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 OMIM NCBI chr 2:69,157,774...69,183,555
Ensembl chr 2:69,157,799...69,183,461
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 molecule ISO OMIM NCBI chr17:48,286,116...48,298,188
Ensembl chr17:48,286,029...48,298,528
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-CoA carboxylase beta ISO ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 5 ClinVar PMID:28492532 NCBI chr14:41,621,574...41,739,916 JBrowse link
G UNG uracil DNA glycosylase ISO OMIM NCBI chr14:41,746,498...41,757,841
Ensembl chr14:41,746,501...41,757,862
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 OMIM NCBI chr 5:62,777,236...62,787,342
Ensembl chr 5:62,777,352...62,787,483
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 5:63,219,229...63,228,566 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:111,778,666...111,788,901
Ensembl chr  X:111,778,493...111,789,711
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13426
    syndrome 6653
      primary immunodeficiency disease 2067
        B cell deficiency 167
          hyperimmunoglobulin syndrome 19
            CD40 ligand deficiency + 3
            hyper IgE syndrome + 11
            hyper IgM syndrome + 6
Path 2
Term Annotations click to browse term
  disease 13426
    disease of anatomical entity 13092
      Immune & Inflammatory Diseases 3057
        immune system disease 2551
          primary immunodeficiency disease 2067
            B cell deficiency 167
              selective immunoglobulin deficiency disease 25
                dysgammaglobulinemia 25
                  hyperimmunoglobulin syndrome 19
                    CD40 ligand deficiency + 3
                    hyper IgE syndrome + 11
                    hyper IgM syndrome + 6
paths to the root