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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 IRF9 on chromosome 14q12. (DO)
Synonyms:exact_synonym: IMD65;   immunodeficiency 65, susceptibility to viral infections
 primary_id: OMIM:618648
For additional species annotation, visit the Alliance of Genome Resources.


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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 ClinVar
OMIM
PMID:30143481, PMID:30826365 NCBI chr15:34,282,936...34,288,981
Ensembl chr15:34,282,936...34,288,138
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    syndrome 7003
      primary immunodeficiency disease 2344
        immunodeficiency 65 1
Path 2
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          monogenic disease 5714
            autosomal genetic disease 4732
              autosomal recessive disease 2601
                immunodeficiency 65 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.