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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:Cd4+ Lymphocyte Deficiency
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Accession:DOID:9007138 term browser browse the term
Synonyms:primary_id: MESH:C566079;   RDO:0014542
For additional species annotation, visit the Alliance of Genome Resources.



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Cd4+ Lymphocyte Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Jak3 Janus kinase 3 ISO DNA:missense mutation:exon:p.C1066R (c.3196T>C) (human) RGD PMID:25205547 RGD:11531127 NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17208
    syndrome 8125
      primary immunodeficiency disease 2705
        Cd4+ Lymphocyte Deficiency 1
Path 2
Term Annotations click to browse term
  disease 17208
    disease of anatomical entity 16554
      Immune & Inflammatory Diseases 4007
        immune system disease 3368
          primary immunodeficiency disease 2705
            Cd4+ Lymphocyte Deficiency 1
paths to the root