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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:Ataxia-Telangiectasia Variant V2
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Accession:DOID:9000280 term browser browse the term
Synonyms:primary_id: MESH:C565380;   RDO:0014031


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10833
      Neurocutaneous Syndromes 359
        ataxia telangiectasia 100
          Ataxia-Telangiectasia Variant V2 0
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        central nervous system disease 12398
          brain disease 11633
            movement disease 2576
              Dyskinesias 2190
                Ataxia 957
                  Spinocerebellar Ataxias 547
                    cerebellar ataxia 471
                      autosomal recessive cerebellar ataxia 162
                        ataxia telangiectasia 100
                          Ataxia-Telangiectasia Variant V2 0
paths to the root