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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 41
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Accession:DOID:0111968 term browser browse the term
Definition:A combined immunodeficiency characterized by a defect in T cell regulation with proliferation of CD8+ T cells, impaired antibody specific responses, and elevated cytokines resulting in recurrent viral, fungal, and bacterial infections, lymphadenopathy, and variable autoimmune features that has_material_basis_in homozygous or compound heterozygous mutation in IL2RA on chromosome 10p15.1. (DO)
Synonyms:exact_synonym: CD25 Deficiency;   IL2RA Deficiency;   IMD41;   IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY;   deficiency of interleukin 2 receptor, alpha;   immunodeficiency due to CD25 deficiency;   interleukin-2 receptor alpha chain deficiency
 primary_id: MESH:C565232
 alt_id: OMIM:606367
 xref: ORDO:169100
For additional species annotation, visit the Alliance of Genome Resources.


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immunodeficiency 41 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il2ra interleukin 2 receptor subunit alpha ISO ClinVar Annotator: match by OMIM:606367
ClinVar Annotator: match by term: Interleukin 2 receptor, alpha, deficiency of
OMIM
ClinVar
PMID:17196245 PMID:23261300 PMID:23416241 PMID:24033266 PMID:24116927 PMID:25741868 PMID:28492532 NCBI chr17:70,500,672...70,547,929
Ensembl chr17:70,499,083...70,548,071
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    syndrome 7036
      primary immunodeficiency disease 2364
        combined immunodeficiency 147
          immunodeficiency 41 1
Path 2
Term Annotations click to browse term
  disease 16091
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7958
          monogenic disease 5742
            autosomal genetic disease 4757
              autosomal recessive disease 2616
                immunodeficiency 41 1
paths to the root