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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;   deficiency of interleukin 2 receptor, alpha;   immunodeficiency 41 with lymphoproliferation and autoimmunity;   immunodeficiency due to CD25 deficiency;   interleukin-2 receptor alpha chain deficiency
 xref: MESH:C565232;   MIM:606367;   MONDO:0011664;   ORDO:169100


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immunodeficiency 41 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbh1 F-box DNA helicase 1 ISO ClinVar Annotator: match by term: Immunodeficiency due to CD25 deficiency ClinVar PMID:28492532 NCBI chr17:71,659,351...71,697,431
Ensembl chr17:71,659,249...71,697,432 		JBrowse link
G Il15ra interleukin 15 receptor subunit alpha ISO ClinVar Annotator: match by term: Immunodeficiency due to CD25 deficiency ClinVar PMID:28492532 NCBI chr17:71,712,141...71,742,072
Ensembl chr17:71,712,141...71,742,149 		JBrowse link
G Il2ra interleukin 2 receptor subunit alpha ISO ClinVar Annotator: match by term: Immunodeficiency due to CD25 deficiency
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
OMIM		 PMID:9096364 PMID:9536098 PMID:16199547 PMID:17196245 PMID:17576681 More... NCBI chr17:71,759,802...71,808,475
Ensembl chr17:71,759,802...71,808,507 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    syndrome 11431
      primary immunodeficiency disease 4502
        combined immunodeficiency 950
          immunodeficiency 41 3
Path 2
Term Annotations click to browse term
  disease 19167
    Developmental Disease 14720
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13780
        genetic disease 13401
          monogenic disease 10835
            autosomal genetic disease 10302
              autosomal recessive disease 7090
                immunodeficiency 41 3
paths to the root