Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   


RGD uses the Human Disease Ontology (DO, 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
go back to main search page
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.

show annotations for term's descendants           Sort by:
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
PMID:26424569 NCBI chr11:31,527,790...31,559,834
Ensembl chr11:31,539,016...31,558,851
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    syndrome 7053
      primary immunodeficiency disease 2373
        immunodeficiency 45 1
Path 2
Term Annotations click to browse term
  disease 16123
    Developmental Diseases 9597
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8441
        genetic disease 7944
          monogenic disease 5725
            autosomal genetic disease 4875
              autosomal recessive disease 2668
                immunodeficiency 45 1
paths to the root