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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 3
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Accession:DOID:0081146 term browser browse the term
Definition:A common variable immunodeficiency that has_material_basis_in homozygous or compound heterozygous mutation in the CD19 gene on chromosome 16p11.2. (DO)
Synonyms:exact_synonym: ANTIBODY DEFICIENCY DUE TO CD19 DEFECT;   CVID3
 primary_id: OMIM:613493
 alt_id: DOID:9002442


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common variable immunodeficiency 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd19 CD19 molecule ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 3 OMIM
ClinVar		 PMID:16672701 PMID:17882224 PMID:21159371 PMID:21330302 PMID:24033266 More... NCBI chr 1:180,987,286...180,993,920
Ensembl chr 1:180,987,286...180,993,975 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10833
      primary immunodeficiency disease 4146
        autoimmune disease 2321
          common variable immunodeficiency 238
            common variable immunodeficiency 3 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      Immune & Inflammatory Diseases 5566
        immune system disease 4773
          lymphatic system disease 1666
            lymphoproliferative syndrome 1053
              agammaglobulinemia 293
                common variable immunodeficiency 238
                  common variable immunodeficiency 3 1
paths to the root