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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:CD8 Deficiency, Familial
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Accession:DOID:9006804 term browser browse the term
Synonyms:primary_id: MESH:C563824;   RDO:0012985
 alt_id: OMIM:608957
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
CD8 Deficiency, Familial term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd8a CD8a molecule ISO ClinVar Annotator: match by term: Cd8 deficiency, familial
ClinVar Annotator: match by OMIM:608957
OMIM
ClinVar
PMID:9536098 PMID:11435463 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr 4:99,217,640...99,243,352
Ensembl chr 4:99,239,115...99,243,351
JBrowse link
G Zap70 zeta chain of T cell receptor associated protein kinase 70 ISO ClinVar Annotator: match by null ClinVar NCBI chr 9:43,331,149...43,353,097
Ensembl chr 9:43,331,155...43,353,113
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17129
    syndrome 8018
      primary immunodeficiency disease 2694
        CD8 Deficiency, Familial 2
Path 2
Term Annotations click to browse term
  disease 17129
    disease of anatomical entity 16476
      Immune & Inflammatory Diseases 3881
        immune system disease 3249
          primary immunodeficiency disease 2694
            CD8 Deficiency, Familial 2
paths to the root