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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


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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 chr16:18,418,807...18,432,515
Ensembl chr16:18,386,405...18,398,536 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    syndrome 11404
      primary immunodeficiency disease 4479
        Cd4+ Lymphocyte Deficiency 1
Path 2
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18451
      Immune & Inflammatory Diseases 5751
        immune system disease 5071
          primary immunodeficiency disease 4479
            Cd4+ Lymphocyte Deficiency 1
paths to the root