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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 63
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Accession:DOID:0111997 term browser browse the term
Definition:A T cell and NK cell immunodeficiency characterized by increased numbers but impaired differentiation of NK cells, T cell abnormalities, recurrent infections, and abnormal immune pathway activation resulting in lymphoid proliferation, dermatitis, enteropathy, and hypergammaglobulinemia that has_material_basis_in homozygous or compound heterozygous mutation in IL2RB on chromosome 22q12.3. (DO)
Synonyms:exact_synonym: CD122 deficiency;   IL2RB deficiency;   IMD63;   Immunodeficiency 63 with Lymphoproliferation and Autoimmunity;   interleukin 2 receptor, beta, deficiency of
 primary_id: OMIM:618495
For additional species annotation, visit the Alliance of Genome Resources.



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immunodeficiency 63 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il2rb interleukin 2 receptor subunit beta ISO ClinVar Annotator: match by term: Immunodeficiency 63 with lymphoproliferation and autoimmunity OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:31040185 NCBI chr 7:110,033,341...110,048,054
Ensembl chr 7:110,033,341...110,048,054
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    syndrome 9456
      primary immunodeficiency disease 3718
        T cell and NK cell immunodeficiency 4
          immunodeficiency 63 1
Path 2
Term Annotations click to browse term
  disease 18032
    Developmental Disease 12742
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11402
        genetic disease 10994
          monogenic disease 8513
            autosomal genetic disease 7518
              autosomal recessive disease 4575
                immunodeficiency 63 1
paths to the root