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ONTOLOGY REPORT - ANNOTATIONS


Term:immunodeficiency with hyper IgM type 3
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Accession:DOID:0060023 term browser browse the term
Definition:A hyper IgM syndrome that has_material_basis_in mutation in the TNFRSF5 gene, resulting in type 3 hyper-IgM immunodeficiency that is characterized by an inability of B cells to undergo isotype switching, an inability to mount an antibody-specific immune response, and a lack of germinal center formation. (DO)
Synonyms:exact_synonym: CD40 deficiency;   HIGM3;   HIGM3 syndrome;   Hyper IgM Immunodeficiency Syndrome Type 3;   hyper IgM syndrome 3;   hyper-IgM syndrome due to CD40 deficiency;   type 3 hyper-IgM immunodeficiency
 primary_id: OMIM:606843
 xref: NCI:C84783;   ORDO:101090
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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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15984
    syndrome 6094
      primary immunodeficiency disease 1110
        combined T cell and B cell immunodeficiency 71
          immunodeficiency with hyper IgM type 3 1
Path 2
Term Annotations click to browse term
  disease 15984
    disease of anatomical entity 15262
      Immune & Inflammatory Diseases 3408
        immune system disease 2797
          primary immunodeficiency disease 1110
            B cell deficiency 84
              selective immunoglobulin deficiency disease 27
                dysgammaglobulinemia 27
                  hyperimmunoglobulin syndrome 18
                    hyper IgM syndrome 6
                      immunodeficiency with hyper IgM type 3 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.