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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 Immunodeficiency Primary
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Accession:DOID:9003794 term browser browse the term
Synonyms:exact_synonym: Primary T-Cell Immunodeficiency Disorders
 primary_id: MESH:C536780


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T Cell Immunodeficiency Primary term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zap70 zeta chain of T cell receptor associated protein kinase 70 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8124727 NCBI chr 9:38,989,750...39,011,701
Ensembl chr 9:38,989,750...39,011,700 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19050
    syndrome 11180
      primary immunodeficiency disease 4306
        T Cell Immunodeficiency Primary 1
Path 2
Term Annotations click to browse term
  disease 19050
    disease of anatomical entity 18384
      Immune & Inflammatory Diseases 5742
        immune system disease 4930
          primary immunodeficiency disease 4306
            T Cell Immunodeficiency Primary 1
paths to the root