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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:T-Cell OKT4 Deficiency
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Accession:DOID:9003796 term browser browse the term
Synonyms:exact_synonym: OKT4 epitope deficiency;   OKT4D;   T4 epitope deficiency
 primary_id: MESH:C566080
 alt_id: OMIM:613949


show annotations for term's descendants           Sort by:
T-Cell OKT4 Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD4 CD4 molecule ISO ClinVar Annotator: match by term: Okt4 epitope deficiency OMIM
ClinVar		 PMID:1708753 PMID:1961196 PMID:7689618 PMID:25741868 PMID:33116287 NCBI chr12:6,920,587...6,951,814
Ensembl chr12:6,834,011...6,864,204 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    syndrome 10166
      primary immunodeficiency disease 3794
        T-Cell OKT4 Deficiency 1
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      Immune & Inflammatory Diseases 5046
        immune system disease 4391
          primary immunodeficiency disease 3794
            T-Cell OKT4 Deficiency 1
paths to the root