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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.


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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
OMIM
ClinVar
PMID:11006530, PMID:11081504, PMID:12446913, PMID:12700598, PMID:15630141, PMID:17953510, PMID:19075398, PMID:19443735, PMID:22235133, PMID:23440042, PMID:24033266, PMID:25398835, PMID:25741868, PMID:26193622, PMID:28492532 NCBI chr 1:196,996,405...197,024,185
Ensembl chr 1:196,996,581...197,024,166
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    syndrome 7003
      primary immunodeficiency disease 2344
        combined immunodeficiency 147
          combined T cell and B cell immunodeficiency 55
            immunodeficiency 56 1
Path 2
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          monogenic disease 5714
            autosomal genetic disease 4732
              autosomal recessive disease 2601
                immunodeficiency 56 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.