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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 56
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Accession:DOID:0111982 term browser browse the term
Definition:A combined T cell and B cell immunodeficiency characterized by B- and T-cell defects including defective class-switched B cells, low IgG, defective antibody response, and defective T-cell responses to certain antigens, and variable dysfunction of NK cells that has_material_basis_in homozygous or compound heterozygous mutation in IL21R on chromosome 16p12.1. (DO)
Synonyms:exact_synonym: IL21R immunodeficiency;   IMD56;   combined immunodeficiency due to IL21R deficiency
 primary_id: OMIM:615207
 xref: ORDO:357329
For additional species annotation, visit the Alliance of Genome Resources.

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immunodeficiency 56 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il21r interleukin 21 receptor ISO ClinVar Annotator: match by OMIM:615207
ClinVar Annotator: match by term: IL21R immunodeficiency
PMID:22235133 PMID:23440042 PMID:24033266 PMID:25398835 PMID:25741868 More... NCBI chr 1:180,168,028...180,195,690
Ensembl chr 1:180,168,097...180,195,522
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      primary immunodeficiency disease 2723
        combined immunodeficiency 182
          combined T cell and B cell immunodeficiency 65
            immunodeficiency 56 1
Path 2
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        genetic disease 9033
          monogenic disease 7190
            autosomal genetic disease 6337
              autosomal recessive disease 3496
                immunodeficiency 56 1
paths to the root