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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:Hypergammaglobulinemia
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Accession:DOID:9005358 term browser browse the term
Definition:An excess of GAMMA-GLOBULINS in the serum due to chronic infections or PARAPROTEINEMIAS.
Synonyms:exact_synonym: Hypergammaglobulinemia;   Hypergammaglobulinemias;   Hyperimmunoglobulinemia;   Hyperimmunoglobulinemias
 primary_id: MESH:D006942;   RDO:0000775
 alt_id: DOID:2959
For additional species annotation, visit the Alliance of Genome Resources.


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Hypergammaglobulinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B2m beta-2 microglobulin ISO CTD Direct Evidence: therapeutic CTD PMID:21793797 NCBI chr 3:114,087,287...114,093,311
Ensembl chr 3:114,087,287...114,093,309
JBrowse link
G Tlr9 toll-like receptor 9 ISO associated with Lupus Erythematosus, Systemic RGD PMID:23467932 RGD:7245987 NCBI chr 8:114,916,122...114,920,171
Ensembl chr 8:114,916,122...114,920,171
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 Ung uracil-DNA glycosylase ISO ClinVar Annotator: match by term: Immunodeficiency with hyper IgM type 5 ClinVar
OMIM
PMID:12958596, PMID:15967827, PMID:17029639, PMID:21167187, PMID:22252118, PMID:22521144, PMID:23545420, 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 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:11007475, PMID:12910268, PMID:14769937, PMID:14962793, PMID:15358621, PMID:15893695, PMID:16964591, PMID:17560278, 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 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
mevalonic aciduria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crp C-reactive protein disease_progression ISO RGD PMID:7780142 RGD:9585642 NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:12477733 NCBI chr 2:27,480,224...27,500,654
Ensembl chr 2:27,480,226...27,500,654
JBrowse link
G Mmab metabolism of cobalamin associated B ISO ClinVar Annotator: match by term: Mevalonic aciduria
ClinVar Annotator: match by term: Hyperimmunoglobulinemia D
ClinVar PMID:23707710, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr12:47,920,712...47,935,438
Ensembl chr12:47,920,743...47,935,525
JBrowse link
G Mvk mevalonate kinase ISO ClinVar Annotator: match by term: Mevalonic aciduria
ClinVar Annotator: match by term: Hyperimmunoglobulinemia D
ClinVar Annotator: match by term: Periodic fever Dutch type
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:260920
ClinVar Annotator: match by OMIM:610377
OMIM
ClinVar
CTD
PMID:1377680, PMID:8386351, PMID:9334262, PMID:10369261, PMID:10369262, PMID:10401001, PMID:10417275, PMID:10896296, PMID:11111075, PMID:11313768, PMID:11313769, PMID:12387810, PMID:12444096, PMID:12477733, PMID:12563048, PMID:12634869, PMID:13130485, PMID:15188372, PMID:15457465, PMID:15536479, PMID:15804303, PMID:16255052, PMID:16435210, PMID:16707534, PMID:16835861, PMID:17105862, PMID:17596604, PMID:18008182, PMID:18414213, PMID:19011501, PMID:19786432, PMID:19877056, PMID:20194276, PMID:21228398, PMID:21399979, PMID:21425920, PMID:21478439, PMID:21548022, PMID:21708801, PMID:22038276, PMID:22983302, PMID:23006543, PMID:23146290, PMID:23692791, PMID:23707710, PMID:23834120, PMID:23979089, PMID:23998246, PMID:24033266, PMID:24073415, PMID:24084495, PMID:24088041, PMID:24177804, PMID:24233262, PMID:24360083, PMID:24411001, PMID:24470648, PMID:24531851, PMID:24561416, PMID:25708585, PMID:25741868, PMID:25866490, PMID:26116953, PMID:26299986, PMID:26386126, PMID:26633545, PMID:26935981, PMID:26977311, PMID:27012807, PMID:27142780, PMID:27213830, PMID:27377765, PMID:28095071, PMID:28492532, PMID:28501347, PMID:29047407, PMID:30148429, PMID:30311386 NCBI chr12:47,904,266...47,920,457
Ensembl chr12:47,904,719...47,919,400
JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:plasma RGD PMID:7780142 RGD:9585642 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
monoclonal gammopathy of uncertain significance term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 susceptibility ISO DNA:microsatellite polymorphism:exon: : RGD PMID:11167807 RGD:11352247 NCBI chr 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065
JBrowse link
G Nefh neurofilament heavy ISO associated with Peripheral Nervous System Diseases RGD PMID:12536221 RGD:9693726 NCBI chr14:85,181,572...85,191,557
Ensembl chr14:85,181,572...85,191,557
JBrowse link
Schnitzler syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il1a interleukin 1 alpha ISO RGD PMID:1831824 RGD:7794711 NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
JBrowse link
G Il1rn interleukin 1 receptor antagonist susceptibility ISO CTD Direct Evidence: therapeutic CTD PMID:16096327, PMID:16096327 RGD:11522758 NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    Pathological Conditions, Signs and Symptoms 8723
      Signs and Symptoms 5192
        Hypergammaglobulinemia 15
          Capillary Leak Syndrome with Monoclonal Gammopathy 0
          Hyperimmunoglobulin G1(A1) Syndrome 0
          Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, and Glomerulonephritis 0
          immunodeficiency with hyper IgM type 5 1
          immunodeficiency with hyper-IgM type 2 3
          immunodeficiency with hyper-IgM type 4 0
          mevalonic aciduria 5
          monoclonal gammopathy of uncertain significance + 4
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      Hemic and Lymphatic Diseases 2045
        hematopoietic system disease 1641
          blood protein disease 288
            Hypergammaglobulinemia 15
              Capillary Leak Syndrome with Monoclonal Gammopathy 0
              Hyperimmunoglobulin G1(A1) Syndrome 0
              Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, and Glomerulonephritis 0
              immunodeficiency with hyper IgM type 5 1
              immunodeficiency with hyper-IgM type 2 3
              immunodeficiency with hyper-IgM type 4 0
              mevalonic aciduria 5
              monoclonal gammopathy of uncertain significance + 4
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.