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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 53
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Accession:DOID:0111992 term browser browse the term
Definition:A combined T cell and B cell immunodeficiency characterized by recurrent upper and lower respiratory infections, increase in the CD4+ T cell to CD8+ T cell ratio, impaired T-cell proliferative responses to multiple antigens, and impaired ability to produce specific immunoglobulins that has_material_basis_in homozygous or compound heterozygous mutation in RELB on chromosome 19q13.32. (DO)
Synonyms:exact_synonym: IMD53
 primary_id: OMIM:617585
For additional species annotation, visit the Alliance of Genome Resources.



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immunodeficiency 53 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Relb RELB proto-oncogene, NF-kB subunit ISO ClinVar Annotator: match by term: Immunodeficiency 53 OMIM
ClinVar
PMID:25741868 PMID:26385063 NCBI chr 1:79,257,738...79,285,490
Ensembl chr 1:79,257,725...79,285,507
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    syndrome 9456
      primary immunodeficiency disease 3718
        combined immunodeficiency 712
          combined T cell and B cell immunodeficiency 239
            immunodeficiency 53 1
Path 2
Term Annotations click to browse term
  disease 18032
    Developmental Disease 12742
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11402
        genetic disease 10994
          monogenic disease 8513
            autosomal genetic disease 7518
              autosomal recessive disease 4575
                immunodeficiency 53 1
paths to the root