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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 the IL2RA gene 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: MIM:606367
 xref: ORDO:169100


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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 term: Immunodeficiency due to CD25 deficiency ClinVar
OMIM		 PMID:9096364 PMID:9536098 PMID:16199547 PMID:17196245 PMID:17576681 More... NCBI chr10:64,948,149...65,001,320
Ensembl chr10:64,948,563...65,001,142 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15279
    syndrome 9958
      primary immunodeficiency disease 3714
        combined immunodeficiency 868
          immunodeficiency 41 1
Path 2
Term Annotations click to browse term
  disease 15279
    Developmental Disease 13226
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12301
        genetic disease 11965
          monogenic disease 10069
            autosomal genetic disease 9300
              autosomal recessive disease 6500
                immunodeficiency 41 1
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