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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 ClinVar Annotator: match by term: Immunodeficiency with hyper IgM type 3
ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 3
ClinVar
OMIM
PMID:11675497 PMID:12584544 PMID:12593727 PMID:14611700 PMID:15272925 More... NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17427
    syndrome 8258
      primary immunodeficiency disease 2728
        combined immunodeficiency 182
          combined T cell and B cell immunodeficiency 65
            immunodeficiency with hyper IgM type 3 1
Path 2
Term Annotations click to browse term
  disease 17427
    disease of anatomical entity 16758
      Immune & Inflammatory Diseases 4046
        immune system disease 3405
          primary immunodeficiency disease 2728
            B cell deficiency 193
              selective immunoglobulin deficiency disease 30
                dysgammaglobulinemia 30
                  hyperimmunoglobulin syndrome 21
                    hyper IgM syndrome 8
                      immunodeficiency with hyper IgM type 3 1
paths to the root