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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


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 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr12:8,602,170...8,612,859
Ensembl chr12:8,602,155...8,613,242 		JBrowse link
G CD40 CD40 molecule EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr20:46,118,314...46,129,858
Ensembl chr20:46,118,271...46,129,863 		JBrowse link
G UNG uracil DNA glycosylase EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr12:109,097,597...109,110,992
Ensembl chr12:109,097,597...109,126,725 		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 IAGP ClinVar Annotator: match by term: Immunodeficiency with hyper IgM type 3
ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 3
ClinVar Annotator: match by term: CD40-related condition | ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 3
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		 ClinVar
OMIM		 PMID:11675497 PMID:12584544 PMID:12593727 PMID:14611700 PMID:15272925 More... NCBI chr20:46,118,314...46,129,858
Ensembl chr20:46,118,271...46,129,863 		JBrowse link
G LOC127893450 CRISPRi-FlowFISH-validated CD40 regulatory element GRCh37_chr20:44746135-44748232 IAGP ClinVar Annotator: match by term: Immunodeficiency with hyper IgM type 3
ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 3		 ClinVar PMID:12593727 PMID:14611700 PMID:15272925 PMID:15307939 PMID:15731360 More... NCBI chr20:46,117,496...46,119,593 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 IAGP ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 5 ClinVar PMID:28492532 NCBI chr12:109,111,189...109,268,226
Ensembl chr12:109,116,587...109,268,226 		JBrowse link
G LOC130008712 ATAC-STARR-seq lymphoblastoid silent region 4838 IAGP ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 5 ClinVar PMID:12958596 PMID:16199547 PMID:28492532 NCBI chr12:109,097,776...109,098,165 JBrowse link
G UNG uracil DNA glycosylase IAGP ClinVar Annotator: match by term: Immunodeficiency with hyper IgM type 5
ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 5 | ClinVar Annotator: match by term: Immunodeficiency with hyper IgM type 5		 ClinVar
OMIM		 PMID:9536098 PMID:12958596 PMID:15967827 PMID:16199547 PMID:17029639 More... NCBI chr12:109,097,597...109,110,992
Ensembl chr12:109,097,597...109,126,725 		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 IAGP
ISS		 ClinVar Annotator: match by term: Hyper-IgM syndrome type 2
OMIM:605258		 OMIM
ClinVar
MouseDO		 PMID:9536098 PMID:11007475 PMID:11112359 PMID:12715918 PMID:12910268 More... NCBI chr12:8,602,170...8,612,859
Ensembl chr12:8,602,155...8,613,242 		JBrowse link
G CLEC4D C-type lectin domain family 4 member D IAGP ClinVar Annotator: match by term: Hyper-IgM syndrome type 2 ClinVar PMID:16964591 PMID:28492532 NCBI chr12:8,513,503...8,531,696
Ensembl chr12:8,509,475...8,522,366 		JBrowse link
G CLEC4E C-type lectin domain family 4 member E IAGP ClinVar Annotator: match by term: Hyper-IgM syndrome type 2 ClinVar PMID:16964591 PMID:28492532 NCBI chr12:8,533,275...8,540,905
Ensembl chr12:8,533,305...8,540,905 		JBrowse link
G CLEC6A C-type lectin domain containing 6A IAGP ClinVar Annotator: match by term: Hyper-IgM syndrome type 2 ClinVar PMID:16964591 PMID:28492532 NCBI chr12:8,455,962...8,478,330
Ensembl chr12:8,455,962...8,478,330 		JBrowse link
G TNFRSF13B TNF receptor superfamily member 13B IAGP ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 2 ClinVar PMID:16007086 PMID:16007087 PMID:17392798 PMID:18981294 PMID:21547394 More... NCBI chr17:16,939,081...16,972,118
Ensembl chr17:16,929,816...16,972,118 		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 IAGP ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:136,300,963...136,416,890
Ensembl chr  X:136,300,963...136,416,890 		JBrowse link
G AICDA activation induced cytidine deaminase IAGP ClinVar Annotator: match by term: Hyperimmunoglobulin M syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr12:8,602,170...8,612,859
Ensembl chr12:8,602,155...8,613,242 		JBrowse link
G ARHGEF6 Rac/Cdc42 guanine nucleotide exchange factor 6 IAGP ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:136,665,550...136,780,932
Ensembl chr  X:136,665,547...136,780,932 		JBrowse link
G BRS3 bombesin receptor subtype 3 IAGP ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:136,487,947...136,493,780
Ensembl chr  X:136,487,947...136,493,780 		JBrowse link
G CD40 CD40 molecule IAGP ClinVar Annotator: match by term: Hyperimmunoglobulin M syndrome
ClinVar Annotator: match by term: X-linked hyper-IgM syndrome		 ClinVar PMID:25741868 PMID:29884852 NCBI chr20:46,118,314...46,129,858
Ensembl chr20:46,118,271...46,129,863 		JBrowse link
G CD40LG CD40 ligand IAGP 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 chr  X:136,648,158...136,660,390
Ensembl chr  X:136,648,158...136,660,390 		JBrowse link
G FHL1 four and a half LIM domains 1 IAGP ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:136,146,702...136,211,359
Ensembl chr  X:136,146,702...136,211,359 		JBrowse link
G GPR101 G protein-coupled receptor 101 IAGP ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:137,023,929...137,033,995
Ensembl chr  X:137,023,929...137,033,995 		JBrowse link
G HTATSF1 HIV-1 Tat specific factor 1 IAGP ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:136,497,229...136,512,346
Ensembl chr  X:136,497,079...136,512,346 		JBrowse link
G LOC127893450 CRISPRi-FlowFISH-validated CD40 regulatory element GRCh37_chr20:44746135-44748232 IAGP ClinVar Annotator: match by term: Hyperimmunoglobulin M syndrome ClinVar NCBI chr20:46,117,496...46,119,593 JBrowse link
G LOC130068753 ATAC-STARR-seq lymphoblastoid silent region 21028 IAGP ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 ClinVar PMID:15358621 PMID:16019685 PMID:28492532 NCBI chr  X:136,658,307...136,658,356 JBrowse link
G MAP7D3 MAP7 domain containing 3 IAGP ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:136,213,220...136,256,482
Ensembl chr  X:136,213,220...136,256,482 		JBrowse link
G RBMX RNA binding motif protein X-linked IAGP ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:136,869,192...136,880,725
Ensembl chr  X:136,848,004...136,880,764 		JBrowse link
G SLC9A6 solute carrier family 9 member A6 IAGP ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:135,973,837...136,047,269
Ensembl chr  X:135,973,841...136,047,269 		JBrowse link
G UNG uracil DNA glycosylase IAGP ClinVar Annotator: match by term: Hyperimmunoglobulin M syndrome ClinVar NCBI chr12:109,097,597...109,110,992
Ensembl chr12:109,097,597...109,126,725 		JBrowse link
G VGLL1 vestigial like family member 1 IAGP ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:136,532,215...136,556,799
Ensembl chr  X:136,532,215...136,556,807 		JBrowse link
G ZIC3 Zic family member 3 IAGP ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:137,566,127...137,577,691
Ensembl chr  X:137,566,127...137,577,691 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 112207
    syndrome 38257
      primary immunodeficiency disease 14712
        B cell deficiency 764
          hyperimmunoglobulin syndrome 85
            hyper IgM syndrome 23
              X-linked hyper IgM syndrome 17
              immunodeficiency with hyper IgM type 3 2
              immunodeficiency with hyper IgM type 5 3
              immunodeficiency with hyper-IgM type 2 5
              immunodeficiency with hyper-IgM type 4 0
Path 2
Term Annotations click to browse term
  disease 112207
    disease of anatomical entity 104973
      Immune & Inflammatory Diseases 21360
        immune system disease 17253
          primary immunodeficiency disease 14712
            B cell deficiency 764
              selective immunoglobulin deficiency disease 128
                dysgammaglobulinemia 128
                  hyperimmunoglobulin syndrome 85
                    hyper IgM syndrome 23
                      X-linked hyper IgM syndrome 17
                      immunodeficiency with hyper IgM type 3 2
                      immunodeficiency with hyper IgM type 5 3
                      immunodeficiency with hyper-IgM type 2 5
                      immunodeficiency with hyper-IgM type 4 0
paths to the root