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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: MIM: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 chr 4:157,668,878...157,695,366
Ensembl chr 4:157,668,878...157,695,191
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19100
    syndrome 11271
      primary immunodeficiency disease 4421
        T-Cell OKT4 Deficiency 1
Path 2
Term Annotations click to browse term
  disease 19100
    disease of anatomical entity 18440
      Immune & Inflammatory Diseases 5757
        immune system disease 5038
          primary immunodeficiency disease 4421
            T-Cell OKT4 Deficiency 1
paths to the root