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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 45
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Accession:DOID:0111994 term browser browse the term
Definition:A primary immunodeficiency disease characterized by impaired control the replication of certain viruses and failure to develop an antiviral state in response to alpha-interferon or beta-interferon that has_material_basis_in homozygous or compound heterozygous mutation in the IFNAR2 gene on chromosome 21q22.11. (DO)
Synonyms:exact_synonym: IMD45
 primary_id: OMIM:616669


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immunodeficiency 45 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IFNAR2 interferon alpha and beta receptor subunit 2 ISO ClinVar Annotator: match by term: Immunodeficiency 45 ClinVar
OMIM		 PMID:9536098 PMID:16757563 PMID:17576681 PMID:25741868 PMID:26424569 More... NCBI chr13:196,765,915...196,852,640
Ensembl chr13:196,766,087...196,852,635 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17415
    syndrome 9894
      primary immunodeficiency disease 3700
        immunodeficiency 45 1
Path 2
Term Annotations click to browse term
  disease 17415
    Developmental Disease 17263
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17177
        genetic disease 17158
          monogenic disease 9978
            autosomal genetic disease 9202
              autosomal recessive disease 6384
                immunodeficiency 45 1
paths to the root