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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 10
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Accession:DOID:0081152 term browser browse the term
Definition:A common variable immunodeficiency that has_material_basis_in heterozygous mutation in the NFKB2 gene on chromosome 10q24. (DO)
Synonyms:exact_synonym: CVID10;   DAVID;   common variable immunodeficiency with central adrenal insufficiency;   deficit in anterior pituitary function and variable immunodeficiency
 primary_id: MIM:615577
 alt_id: DOID:9000689


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common variable immunodeficiency 10 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nfkb2 nuclear factor kappa B subunit 2 ISO ClinVar Annotator: match by term: DEFICIT IN ANTERIOR PITUITARY FUNCTION AND VARIABLE IMMUNODEFICIENCY | ClinVar Annotator: match by term: Immunodeficiency, common variable, 10 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16303288 PMID:17576681 PMID:22013103 More... NCBI chr 1:245,164,586...245,173,225
Ensembl chr 1:245,165,950...245,173,213 		JBrowse link
G Psd pleckstrin and Sec7 domain containing ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 10 ClinVar PMID:24140114 PMID:24702956 PMID:25524009 PMID:25605273 PMID:25741868 More... NCBI chr 1:245,173,279...245,188,681
Ensembl chr 1:245,173,279...245,189,356 		JBrowse link
G Stim1 stromal interaction molecule 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 10 ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:156,656,246...156,818,777
Ensembl chr 1:156,656,013...156,818,363 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19106
    disease of anatomical entity 18445
      immune system disease 5041
        autoimmune disease 2365
          common variable immunodeficiency 240
            common variable immunodeficiency 10 3
Path 2
Term Annotations click to browse term
  disease 19106
    Developmental Disease 14617
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13628
        genetic disease 13290
          monogenic disease 10876
            autosomal genetic disease 10360
              autosomal recessive disease 6959
                common variable immunodeficiency 240
                  common variable immunodeficiency 10 3
paths to the root