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ONTOLOGY REPORT - ANNOTATIONS


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: immunodeficiency with hyper-IgM
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immunodeficiency with hyper IgM type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cd40 CD40 molecule JBrowse link 3 161,519,789 161,534,943 RGD:8554872
RGD:7240710
immunodeficiency with hyper IgM type 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ung uracil-DNA glycosylase JBrowse link 12 48,246,593 48,255,547 RGD:8554872
RGD:7240710
immunodeficiency with hyper-IgM type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aicda activation-induced cytidine deaminase JBrowse link 4 155,359,909 155,371,104 RGD:8554872
RGD:7240710
X-linked hyper IgM syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cd40lg CD40 ligand JBrowse link X 159,703,703 159,714,886 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15553
    Developmental Diseases 8823
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7613
        genetic disease 7096
          hyperimmunoglobulin syndrome 16
            hyper IgM syndrome 4
              X-linked hyper IgM syndrome 1
              immunodeficiency with hyper IgM type 3 1
              immunodeficiency with hyper IgM type 5 1
              immunodeficiency with hyper-IgM type 2 1
              immunodeficiency with hyper-IgM type 4 0
Path 2
Term Annotations click to browse term
  disease 15553
    disease of anatomical entity 14837
      Immune & Inflammatory Diseases 3120
        immune system disease 2541
          primary immunodeficiency disease 978
            B cell deficiency 77
              selective immunoglobulin deficiency disease 25
                dysgammaglobulinemia 25
                  hyperimmunoglobulin syndrome 16
                    hyper IgM syndrome 4
                      X-linked hyper IgM syndrome 1
                      immunodeficiency with hyper IgM type 3 1
                      immunodeficiency with hyper IgM type 5 1
                      immunodeficiency with hyper-IgM type 2 1
                      immunodeficiency with hyper-IgM type 4 0
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.