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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;   CD40-RELATED CONDITION;   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: GARD:10579;   NCI:C176416;   ORDO:101090


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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: CD40-related condition | ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 3 | ClinVar Annotator: match by term: Immunodeficiency with hyper IgM type 3 OMIM
ClinVar		 PMID:11675497 PMID:12584544 PMID:12593727 PMID:14611700 PMID:15272925 More... NCBI chr24:33,352,992...33,383,488
Ensembl chr24:33,372,930...33,383,301 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17774
    syndrome 10062
      primary immunodeficiency disease 3733
        combined immunodeficiency 866
          combined T cell and B cell immunodeficiency 326
            immunodeficiency with hyper IgM type 3 1
Path 2
Term Annotations click to browse term
  disease 17774
    disease of anatomical entity 15146
      Immune & Inflammatory Diseases 5006
        immune system disease 4334
          primary immunodeficiency disease 3733
            B cell deficiency 335
              selective immunoglobulin deficiency disease 45
                dysgammaglobulinemia 45
                  hyperimmunoglobulin syndrome 38
                    hyper IgM syndrome 18
                      immunodeficiency with hyper IgM type 3 1
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