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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 95
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Accession:DOID:9006705 term browser browse the term
Definition:An autosomal recessive disorder characterized predominantly by the onset of recurrent and severe viral respiratory infections in infancy or early childhood. Caused by homozygous loss-of-function mutation in the IFIH1 gene on chromosome 2q24.
Synonyms:exact_synonym: IMD95
 primary_id: OMIM:619773


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Immunodeficiency 95 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ifih1 interferon induced with helicase C domain 1 ISO ClinVar Annotator: match by term: Immunodeficiency 95 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28606988 PMID:28716935 PMID:29018476 More... NCBI chr 3:47,228,980...47,275,403
Ensembl chr 3:47,227,364...47,275,456 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21108
    syndrome 10708
      primary immunodeficiency disease 4124
        Immunodeficiency 95 1
Path 2
Term Annotations click to browse term
  disease 21108
    disease of anatomical entity 18147
      Immune & Inflammatory Diseases 5535
        immune system disease 4747
          primary immunodeficiency disease 4124
            Immunodeficiency 95 1
paths to the root