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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 6
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Accession:DOID:0081149 term browser browse the term
Definition:A common variable immunodeficiency that has_material_basis_in homozygous mutation in the CD81 gene on chromosome 11p. (DO)
Synonyms:exact_synonym: ANTIBODY DEFICIENCY DUE TO CD81 DEFECT;   CVID6
 primary_id: OMIM:613496
 alt_id: DOID:9002131


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common variable immunodeficiency 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd81 Cd81 molecule ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 6 OMIM
ClinVar		 PMID:20237408 PMID:25741868 PMID:28492532 NCBI chr 1:198,235,861...198,251,660
Ensembl chr 1:198,241,484...198,251,660 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10889
      primary immunodeficiency disease 4151
        autoimmune disease 2325
          common variable immunodeficiency 238
            common variable immunodeficiency 6 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      Immune & Inflammatory Diseases 5573
        immune system disease 4781
          lymphatic system disease 1673
            lymphoproliferative syndrome 1058
              agammaglobulinemia 293
                common variable immunodeficiency 238
                  common variable immunodeficiency 6 1
paths to the root