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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: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
For additional species annotation, visit the Alliance of Genome Resources.


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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 OMIM NCBI chrNW_004936514:6,936,915...6,947,246 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12827
    syndrome 6574
      primary immunodeficiency disease 2008
        combined immunodeficiency 143
          combined T cell and B cell immunodeficiency 58
            immunodeficiency with hyper IgM type 3 1
Path 2
Term Annotations click to browse term
  disease 12827
    disease of anatomical entity 12505
      Immune & Inflammatory Diseases 2936
        immune system disease 2477
          primary immunodeficiency disease 2008
            B cell deficiency 175
              selective immunoglobulin deficiency disease 25
                dysgammaglobulinemia 25
                  hyperimmunoglobulin syndrome 19
                    hyper IgM syndrome 7
                      immunodeficiency with hyper IgM type 3 1
paths to the root