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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 IgM syndrome
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Accession:DOID:0080544 term browser browse the term
Definition:A hyperimmunoglobin syndrome that is characterized by an immune system that fails to produce normal levels of the antibodies IgA, IgG and IgE but can produce normal or elevated levels of IgM. (DO)
Synonyms:exact_synonym: HIGM;   hyper-IgM immunodeficiency syndrome;   hyper-IgM immunodeficiency syndromes;   hyper-IgM syndromes;   immunodeficiency with hyper-IgM;   immunodeficiency with hyper-IgM syndrome
 primary_id: MESH:D053306
 xref: OMIM:PS308230
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
hyper IgM syndrome term browser
Symbol Object Name 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 4:155,359,909...155,371,104
Ensembl chr 4:155,359,921...155,369,671
JBrowse link
G Cd40 CD40 molecule ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Immunodeficiency with Hyper-IgM
CTD
ClinVar
NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
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:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562
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 chr12:48,246,593...48,255,547
Ensembl chr12:48,246,569...48,254,822
JBrowse link
immunodeficiency with hyper IgM type 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd40 CD40 molecule 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 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
JBrowse link
immunodeficiency with hyper IgM type 5 term browser
Symbol Object Name 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 chr12:48,127,149...48,238,969
Ensembl chr12:48,127,149...48,238,887
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 chr12:48,246,593...48,255,547
Ensembl chr12:48,246,569...48,254,822
JBrowse link
immunodeficiency with hyper-IgM type 2 term browser
Symbol Object Name 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 4:155,359,909...155,371,104
Ensembl chr 4:155,359,921...155,369,671
JBrowse link
G Clec4a C-type lectin domain family 4, member A ISO ClinVar Annotator: match by term: Hyper-IgM syndrome type 2 ClinVar PMID:16964591 PMID:28492532 NCBI chr 4:156,049,800...156,069,260
Ensembl chr 4:156,050,054...156,069,313
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 4:156,253,084...156,264,766
Ensembl chr 4:156,253,079...156,264,769
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 4:156,271,087...156,276,243
Ensembl chr 4:156,270,920...156,276,304
JBrowse link
X-linked hyper IgM syndrome term browser
Symbol Object Name 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:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16918
    syndrome 7575
      primary immunodeficiency disease 2514
        B cell deficiency 182
          hyperimmunoglobulin syndrome 21
            hyper IgM syndrome 8
              X-linked hyper IgM syndrome 1
              immunodeficiency with hyper IgM type 3 1
              immunodeficiency with hyper IgM type 5 2
              immunodeficiency with hyper-IgM type 2 4
              immunodeficiency with hyper-IgM type 4 0
Path 2
Term Annotations click to browse term
  disease 16918
    disease of anatomical entity 16286
      Immune & Inflammatory Diseases 3697
        immune system disease 3059
          primary immunodeficiency disease 2514
            B cell deficiency 182
              selective immunoglobulin deficiency disease 30
                dysgammaglobulinemia 30
                  hyperimmunoglobulin syndrome 21
                    hyper IgM syndrome 8
                      X-linked hyper IgM syndrome 1
                      immunodeficiency with hyper IgM type 3 1
                      immunodeficiency with hyper IgM type 5 2
                      immunodeficiency with hyper-IgM type 2 4
                      immunodeficiency with hyper-IgM type 4 0
paths to the root