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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 69
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Accession:DOID:0112006 term browser browse the term
Definition:A T cell and NK cell immunodeficiency characterized by increased susceptibility to disseminated mycobacterial infection and failure of T and NK cells to produce gamma-interferon when stimulated in vitro that has_material_basis_in homozygous or compound heterozygous mutation in the IFNG gene on chromosome 12q15. (DO)
Synonyms:exact_synonym: IFNG deficiency, autosomal recessive;   IMD69;   immunodeficiency 69, mycobacteriosis;   immunodeficiency 69, mycobacteriosis, autosomal recessive
 primary_id: OMIM:618963


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immunodeficiency 69 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ifng interferon gamma ISO ClinVar Annotator: match by term: Immunodeficiency 69 OMIM
ClinVar		 PMID:24033266 PMID:25741868 PMID:32163377 NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18300
    syndrome 10334
      primary immunodeficiency disease 3853
        T cell and NK cell immunodeficiency 4
          immunodeficiency 69 1
Path 2
Term Annotations click to browse term
  disease 18300
    disease by infectious agent 2198
      Bacterial Infections and Mycoses 1043
        bacterial infectious disease 833
          Gram-Positive Bacterial Infections 404
            Actinomycetales Infections 328
              Mycobacterium Infections 327
                Nontuberculous Mycobacterium Infections 160
                  immunodeficiency 69 1
paths to the root