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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 107
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Accession:DOID:9006021 term browser browse the term
Definition:An autosomal dominant immunologic disorder characterized most often by the development of invasive and severe life-threatening infections with S. aureus affecting the skin and/or lungs. Conferred by heterozygous mutation in the OTULIN gene on chromosome 5p15.
Synonyms:exact_synonym: IMD107;   Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection
 primary_id: OMIM:619986

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Immunodeficiency 107 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Otulin OTU deubiquitinase with linear linkage specificity susceptibility ISO ClinVar Annotator: match by term: Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection ClinVar
OMIM		 PMID:25741868 PMID:27559085 PMID:28492532 PMID:35587511 NCBI chrNW_004936665:1,654,045...1,690,955
Ensembl chrNW_004936665:1,668,311...1,690,918 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    syndrome 9491
      primary immunodeficiency disease 3540
        Immunodeficiency 107 1
Path 2
Term Annotations click to browse term
  disease 16465
    disease by infectious agent 1965
      Bacterial Infections and Mycoses 946
        bacterial infectious disease 745
          Gram-Positive Bacterial Infections 352
            Staphylococcal Infections 29
              Immunodeficiency 107 1
paths to the root