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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:Immunodeficiency 82
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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: MIM:619381


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Immunodeficiency 82 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SYK spleen associated tyrosine kinase IAGP ClinVar Annotator: match by term: Immunodeficiency 82 with systemic inflammation OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:33782605 NCBI chr 9:90,801,600...90,898,549
Ensembl chr 9:90,801,787...90,898,549 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 53596
    syndrome 25122
      primary immunodeficiency disease 7722
        Immunodeficiency 82 1
Path 2
Term Annotations click to browse term
  disease 53596
    disease of anatomical entity 49284
      Immune & Inflammatory Diseases 10317
        immune system disease 8784
          primary immunodeficiency disease 7722
            Immunodeficiency 82 1
paths to the root