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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 ClinVar
OMIM
PMID:32518946 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 17205
    syndrome 8125
      primary immunodeficiency disease 2705
        Immunodeficiency 75 1
Path 2
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      Immune & Inflammatory Diseases 4007
        immune system disease 3367
          primary immunodeficiency disease 2705
            Immunodeficiency 75 1
paths to the root