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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 5
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Accession:DOID:0081148 term browser browse the term
Definition:A common variable immunodeficiency that has_material_basis_in homozygous mutation in the CD20 gene (MS4A1) on chromosome 11q13. (DO)
Synonyms:exact_synonym: CVID5;   antibody deficiency due to CD20 defect
 primary_id: OMIM:613495
 alt_id: DOID:9001688


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common variable immunodeficiency 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ms4a1 membrane-spanning 4-domains, subfamily A, member 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 5 OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr19:11,227,043...11,243,513
Ensembl chr19:11,227,039...11,243,605 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16121
    syndrome 10387
      primary immunodeficiency disease 3862
        autoimmune disease 2070
          common variable immunodeficiency 237
            common variable immunodeficiency 5 1
Path 2
Term Annotations click to browse term
  disease 16121
    disease of anatomical entity 15680
      Immune & Inflammatory Diseases 5180
        immune system disease 4473
          lymphatic system disease 1643
            lymphoproliferative syndrome 1036
              agammaglobulinemia 295
                common variable immunodeficiency 237
                  common variable immunodeficiency 5 1
paths to the root