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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 11
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Accession:DOID:0081153 term browser browse the term
Definition:A common variable immunodeficiency that has_material_basis_in homozygous mutation in the IL21 gene on chromosome 4q27. (DO)
Synonyms:exact_synonym: CVID11
 primary_id: OMIM:615767
 alt_id: DOID:9005947


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common variable immunodeficiency 11 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il21 interleukin 21 ISO ClinVar Annotator: match by term: Common variable immunodeficiency 11 OMIM
ClinVar		 PMID:24033266 PMID:24746753 PMID:25741868 PMID:28492532 NCBI chr 3:37,276,908...37,286,785
Ensembl chr 3:37,276,908...37,286,785 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16109
    syndrome 10398
      primary immunodeficiency disease 3868
        autoimmune disease 2072
          common variable immunodeficiency 237
            common variable immunodeficiency 11 1
Path 2
Term Annotations click to browse term
  disease 16109
    disease of anatomical entity 15681
      Immune & Inflammatory Diseases 5186
        immune system disease 4477
          lymphatic system disease 1643
            lymphoproliferative syndrome 1037
              agammaglobulinemia 296
                common variable immunodeficiency 237
                  common variable immunodeficiency 11 1
paths to the root