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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: OMIM:619381
For additional species annotation, visit the Alliance of Genome Resources.


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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 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION ClinVar
OMIM
PMID:25741868 PMID:33782605 NCBI chr17:12,604,615...12,678,437
Ensembl chr17:12,604,619...12,661,410
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17208
    syndrome 8125
      primary immunodeficiency disease 2705
        Immunodeficiency 82 1
Path 2
Term Annotations click to browse term
  disease 17208
    disease of anatomical entity 16554
      Immune & Inflammatory Diseases 4007
        immune system disease 3368
          primary immunodeficiency disease 2705
            Immunodeficiency 82 1
paths to the root