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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: ICD10CM:D80.5;   MIM:PS308230;   NCI:C84783

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hyper IgM syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd40 CD40 molecule ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955445:11,191,817...11,202,156
Ensembl chrNW_004955445:11,190,603...11,202,093 		JBrowse link
G Ung uracil DNA glycosylase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955455:10,266,989...10,282,196
Ensembl chrNW_004955455:10,266,989...10,282,196 		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: CD40-related condition | ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 3 | ClinVar Annotator: match by term: Immunodeficiency with hyper IgM type 3 OMIM
ClinVar		 PMID:11675497 PMID:12584544 PMID:12593727 PMID:14611700 PMID:15272925 More... NCBI chrNW_004955445:11,191,817...11,202,156
Ensembl chrNW_004955445:11,190,603...11,202,093 		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 chrNW_004955455:10,282,308...10,427,439
Ensembl chrNW_004955455:10,308,192...10,426,076 		JBrowse link
G Ung uracil DNA glycosylase ISO ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 5 | ClinVar Annotator: match by term: Immunodeficiency with hyper IgM type 5 OMIM
ClinVar		 PMID:9536098 PMID:12958596 PMID:15967827 PMID:16199547 PMID:17029639 More... NCBI chrNW_004955455:10,266,989...10,282,196
Ensembl chrNW_004955455:10,266,989...10,282,196 		JBrowse link
immunodeficiency with hyper-IgM type 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 chrNW_004955413:5,267,548...5,276,969
Ensembl chrNW_004955413:5,267,161...5,277,090 		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 chrNW_004955413:5,256,523...5,261,385
Ensembl chrNW_004955413:5,256,440...5,262,938 		JBrowse link
G Tnfrsf13b TNF receptor superfamily member 13B ISO ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 2 ClinVar PMID:16007086 PMID:16007087 PMID:17392798 PMID:18981294 PMID:21547394 More... NCBI chrNW_004955577:930,612...971,698 JBrowse link
X-linked hyper IgM syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrg4 adhesion G protein-coupled receptor G4 ISO ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chrNW_004955489:8,690,268...8,801,358
Ensembl chrNW_004955489:8,701,814...8,801,358 		JBrowse link
G Arhgef6 Rac/Cdc42 guanine nucleotide exchange factor 6 ISO ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chrNW_004955489:8,360,027...8,459,309
Ensembl chrNW_004955489:8,360,072...8,459,377 		JBrowse link
G Brs3 bombesin receptor subtype 3 ISO ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chrNW_004955489:8,627,569...8,631,810
Ensembl chrNW_004955489:8,627,569...8,631,810 		JBrowse link
G Cd40 CD40 molecule ISO ClinVar Annotator: match by term: Hyperimmunoglobulin M syndrome | ClinVar Annotator: match by term: X-linked hyper-IgM syndrome ClinVar PMID:25741868 PMID:29884852 NCBI chrNW_004955445:11,191,817...11,202,156
Ensembl chrNW_004955445:11,190,603...11,202,093 		JBrowse link
G Cd40lg CD40 ligand ISO ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 | ClinVar Annotator: match by term: Hyperimmunoglobulin M syndrome ClinVar PMID:1385114 PMID:1427881 PMID:7586644 PMID:7678782 PMID:7679206 More... NCBI chrNW_004955489:8,465,571...8,477,714
Ensembl chrNW_004955489:8,465,164...8,477,746 		JBrowse link
G Fhl1 four and a half LIM domains 1 ISO ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chrNW_004955489:8,888,845...8,944,778
Ensembl chrNW_004955489:8,888,779...8,901,970 		JBrowse link
G Gpr101 G protein-coupled receptor 101 ISO ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chrNW_004955489:8,125,763...8,127,280
Ensembl chrNW_004955489:8,125,763...8,127,280 		JBrowse link
G Htatsf1 HIV-1 Tat specific factor 1 ISO ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chrNW_004955489:8,607,649...8,622,044
Ensembl chrNW_004955489:8,607,629...8,622,044 		JBrowse link
G Map7d3 MAP7 domain containing 3 ISO ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chrNW_004955489:8,851,359...8,884,867 JBrowse link
G Rbmx RNA binding motif protein X-linked ISO ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chrNW_004955489:8,280,842...8,286,252
Ensembl chrNW_004955489:8,280,794...8,286,252 		JBrowse link
G Slc9a6 solute carrier family 9 member A6 ISO ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chrNW_004955489:9,020,719...9,078,375
Ensembl chrNW_004955489:9,019,425...9,078,705 		JBrowse link
G Ung uracil DNA glycosylase ISO ClinVar Annotator: match by term: Hyperimmunoglobulin M syndrome ClinVar NCBI chrNW_004955455:10,266,989...10,282,196
Ensembl chrNW_004955455:10,266,989...10,282,196 		JBrowse link
G Vgll1 vestigial like family member 1 ISO ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chrNW_004955489:8,569,891...8,586,770 JBrowse link
G Zic3 Zic family member 3 ISO ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chrNW_004955489:7,560,684...7,571,739
Ensembl chrNW_004955489:7,560,684...7,571,892 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14336
    syndrome 9815
      primary immunodeficiency disease 3745
        B cell deficiency 399
          hyperimmunoglobulin syndrome 64
            hyper IgM syndrome 18
              X-linked hyper IgM syndrome 14
              immunodeficiency with hyper IgM type 3 1
              immunodeficiency with hyper IgM type 5 2
              immunodeficiency with hyper-IgM type 2 3
              immunodeficiency with hyper-IgM type 4 0
Path 2
Term Annotations click to browse term
  disease 14336
    disease of anatomical entity 14029
      Immune & Inflammatory Diseases 4835
        immune system disease 4296
          primary immunodeficiency disease 3745
            B cell deficiency 399
              selective immunoglobulin deficiency disease 69
                dysgammaglobulinemia 69
                  hyperimmunoglobulin syndrome 64
                    hyper IgM syndrome 18
                      X-linked hyper IgM syndrome 14
                      immunodeficiency with hyper IgM type 3 1
                      immunodeficiency with hyper IgM type 5 2
                      immunodeficiency with hyper-IgM type 2 3
                      immunodeficiency with hyper-IgM type 4 0
paths to the root