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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 the IL2RB gene on chromosome 22q12.3. (DO)
Synonyms:exact_synonym: CD122 deficiency;   IL2RB deficiency;   IL2RB-RELATED CONDITION;   IMD63;   Immunodeficiency 63 with Lymphoproliferation and Autoimmunity;   interleukin 2 receptor, beta, deficiency of
 primary_id: OMIM:618495


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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: IL2RB-related condition | 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 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10889
      primary immunodeficiency disease 4151
        T cell and NK cell immunodeficiency 4
          immunodeficiency 63 1
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        genetic disease 13036
          monogenic disease 10421
            autosomal genetic disease 9578
              autosomal recessive disease 6657
                immunodeficiency 63 1
paths to the root