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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 65
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Accession:DOID:0111978 term browser browse the term
Definition:A primary immunodeficiency disease characterized by onset in early infancy of recurrent and severe viral infections, impaired cellular type I interferon response, and poor outcomes after vaccination with live attenuated vaccines that has_material_basis_in homozygous or compound heterozygous mutation in the IRF9 gene on chromosome 14q12. (DO)
Synonyms:exact_synonym: IMD65;   immunodeficiency 65, susceptibility to viral infections
 primary_id: OMIM:618648


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immunodeficiency 65 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Irf9 interferon regulatory factor 9 susceptibility ISO ClinVar Annotator: match by term: Immunodeficiency 65, susceptibility to viral infections OMIM
ClinVar		 PMID:30143481 PMID:30826365 NCBI chr15:29,095,474...29,101,924
Ensembl chr15:29,095,789...29,101,236 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10889
      primary immunodeficiency disease 4151
        immunodeficiency 65 1
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        genetic disease 13036
          monogenic disease 10421
            autosomal genetic disease 9578
              autosomal recessive disease 6657
                immunodeficiency 65 1
paths to the root