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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:Immunodeficiency 75
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Accession:DOID:9004835 term browser browse the term
Synonyms:exact_synonym: IMD75
 primary_id: OMIM:619126
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
Immunodeficiency 75 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tet2 tet methylcytosine dioxygenase 2 ISO ClinVar Annotator: match by term: Immunodeficiency 75 OMIM
ClinVar
PMID:20061559 PMID:24315485 PMID:24728327 PMID:25741868 PMID:27834397 More... NCBI chr 2:221,988,645...222,072,813
Ensembl chr 2:221,988,645...222,072,534
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18256
    syndrome 9802
      primary immunodeficiency disease 3867
        Immunodeficiency 75 1
Path 2
Term Annotations click to browse term
  disease 18256
    disease of anatomical entity 17617
      Immune & Inflammatory Diseases 5217
        immune system disease 4522
          primary immunodeficiency disease 3867
            Immunodeficiency 75 1
paths to the root