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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 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.



show annotations for term's descendants           Sort by:
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 term: IL21R immunodeficiency OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:22235133 PMID:23440042 PMID:24033266 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 18256
    syndrome 9802
      primary immunodeficiency disease 3867
        combined immunodeficiency 771
          combined T cell and B cell immunodeficiency 241
            immunodeficiency 56 1
Path 2
Term Annotations click to browse term
  disease 18256
    Developmental Disease 13110
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11866
        genetic disease 11373
          monogenic disease 8946
            autosomal genetic disease 7992
              autosomal recessive disease 4970
                immunodeficiency 56 1
paths to the root