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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 IFNG on chromosome 12q15. (DO)
Synonyms:exact_synonym: IFNG deficiency, autosomal recessive;   IMD69;   immunodeficiency 69, mycobacteriosis;   immunodeficiency 69, mycobacteriosis, autosomal recessive
 primary_id: OMIM:618963
For additional species annotation, visit the Alliance of Genome Resources.


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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 ClinVar
OMIM
PMID:32163377 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    syndrome 7041
      primary immunodeficiency disease 2375
        T cell and NK cell immunodeficiency 4
          immunodeficiency 69 1
Path 2
Term Annotations click to browse term
  disease 16085
    disease by infectious agent 1805
      Bacterial Infections and Mycoses 694
        bacterial infectious disease 586
          Gram-Positive Bacterial Infections 202
            Actinomycetales Infections 149
              Mycobacterium Infections 148
                Nontuberculous Mycobacterium Infections 26
                  immunodeficiency 69 1
paths to the root