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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 IFNAR2 on chromosome 21q22.11. (DO)
Synonyms:exact_synonym: IMD45
 primary_id: OMIM:616669
For additional species annotation, visit the Alliance of Genome Resources.



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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 OMIM
ClinVar
PMID:9536098 PMID:16757563 PMID:17576681 PMID:25741868 PMID:26424569 More... NCBI chr11:30,613,576...30,645,958
Ensembl chr11:30,613,767...30,668,124
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18109
    syndrome 9634
      primary immunodeficiency disease 3820
        immunodeficiency 45 1
Path 2
Term Annotations click to browse term
  disease 18109
    Developmental Disease 12858
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11550
        genetic disease 11085
          monogenic disease 8558
            autosomal genetic disease 7555
              autosomal recessive disease 4613
                immunodeficiency 45 1
paths to the root