Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
Accession:DOID:9005297 term browser browse the term
Definition:An autosomal recessive immunologic disorder characterized by increased susceptibility to disseminated mycobacterial infection apparent in early childhood. Caused by homozygous mutation in the IRF1 gene on chromosome 5q31.
Synonyms:exact_synonym: IMD117;   Immunodeficiency 117, mycobacteriosis, autosomal recessive
 primary_id: OMIM:620668



show annotations for term's descendants           Sort by:
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 chr10:37,917,155...37,924,166
Ensembl chr10:37,916,670...37,924,166
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21121
    syndrome 10792
      primary immunodeficiency disease 4141
        Immunodeficiency 117 1
Path 2
Term Annotations click to browse term
  disease 21121
    disease by infectious agent 2212
      Bacterial Infections and Mycoses 1072
        bacterial infectious disease 824
          Gram-Positive Bacterial Infections 394
            Actinomycetales Infections 320
              Mycobacterium Infections 319
                Nontuberculous Mycobacterium Infections 151
                  Immunodeficiency 117 1
paths to the root