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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:Common Variable Immunodeficiency 15
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Accession:DOID:9007541 term browser browse the term
Definition:An autosomal dominant immunologic disorder characterized by the onset of severe recurrent infections in infancy or early childhood. Caused by heterozygous mutation in the SEC61A1 gene on chromosome 3q21.
Synonyms:exact_synonym: CVID15
 primary_id: OMIM:620670

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Common Variable Immunodeficiency 15 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RUVBL1 RuvB like AAA ATPase 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 15 ClinVar PMID:28782633 NCBI chr22:52,887,374...52,967,728
Ensembl chr22:52,924,819...52,967,830 		JBrowse link
G SEC61A1 SEC61 translocon subunit alpha 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 15 OMIM
ClinVar		 PMID:25741868 PMID:28782633 NCBI chr22:52,977,101...52,994,766
Ensembl chr22:52,976,872...52,992,039 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15274
    syndrome 9981
      primary immunodeficiency disease 3708
        autoimmune disease 1982
          common variable immunodeficiency 236
            Common Variable Immunodeficiency 15 2
Path 2
Term Annotations click to browse term
  disease 15274
    disease of anatomical entity 14894
      Immune & Inflammatory Diseases 4944
        immune system disease 4303
          lymphatic system disease 1576
            lymphoproliferative syndrome 985
              agammaglobulinemia 292
                common variable immunodeficiency 236
                  Common Variable Immunodeficiency 15 2
paths to the root