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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 117
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Accession:DOID:0061083 term browser browse the term
Definition:A T cell and NK cell immunodeficiency that is characterized by increased susceptibility to disseminated mycobacterial infection apparent in early childhood and that has_material_basis_in homozygous mutation in the IRF1 gene on chromosome 5q31. (DO)
Synonyms:exact_synonym: IMD117;   Immunodeficiency 117, mycobacteriosis, autosomal recessive
 alt_id: DOID:9005297
 xref: MIM:620668;   MONDO:0958011


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immunodeficiency 117 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Irf1 interferon regulatory factor 1 ISO ClinVar Annotator: match by term: Immunodeficiency 117 OMIM
ClinVar		 NCBI chr10:38,417,935...38,424,946
Ensembl chr10:38,417,148...38,424,947 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    syndrome 11431
      primary immunodeficiency disease 4502
        T cell and NK cell immunodeficiency 7
          immunodeficiency 117 1
Path 2
Term Annotations click to browse term
  disease 19167
    disease by infectious agent 2257
      Bacterial Infections and Mycoses 1120
        bacterial infectious disease 824
          Gram-Positive Bacterial Infections 395
            Actinomycetales Infections 321
              Mycobacterium Infections 320
                Nontuberculous Mycobacterium Infections 151
                  immunodeficiency 117 1
paths to the root