Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

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
go back to main search page
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


show annotations for term's descendants           Sort by:
common variable immunodeficiency 10 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nfkb2 nuclear factor of kappa light polypeptide gene enhancer in B cells 2, p49/p100 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 chr19:46,285,478...46,300,839
Ensembl chr19:46,292,759...46,300,824 		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 7:101,909,279...102,086,525
Ensembl chr 7:101,917,013...102,086,526 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16188
    disease of anatomical entity 15805
      immune system disease 4626
        autoimmune disease 2110
          common variable immunodeficiency 238
            common variable immunodeficiency 10 2
Path 2
Term Annotations click to browse term
  disease 16188
    Developmental Disease 13932
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12953
        genetic disease 12642
          monogenic disease 10693
            autosomal genetic disease 9884
              autosomal recessive disease 6915
                common variable immunodeficiency 238
                  common variable immunodeficiency 10 2
paths to the root