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   new 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

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:Immunodeficiency 82
go back to main search page
Accession:DOID:9004738 term browser browse the term
Definition:A complex autosomal dominant immunologic disorder characterized by recurrent infections with various organisms, as well as noninfectious inflammation manifest as lymphocytic organ infiltration with gastritis, colitis, and lung, liver, CNS, or skin disease. Caused by heterozygous mutation in the SYK gene on chromosome 9q22. (OMIM)
Synonyms:exact_synonym: IMD82;   immunodeficiency 82 with systemic inflammation
 primary_id: OMIM:619381


show annotations for term's descendants           Sort by:
Immunodeficiency 82 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Syk spleen tyrosine kinase ISO ClinVar Annotator: match by term: Immunodeficiency 82 with systemic inflammation OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:33782605 NCBI chr13:52,736,670...52,802,828
Ensembl chr13:52,737,209...52,802,828 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    syndrome 10338
      primary immunodeficiency disease 3856
        Immunodeficiency 82 1
Path 2
Term Annotations click to browse term
  disease 18301
    disease of anatomical entity 15631
      Immune & Inflammatory Diseases 5172
        immune system disease 4464
          primary immunodeficiency disease 3856
            Immunodeficiency 82 1
paths to the root