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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
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Accession:DOID:9005628 term browser browse the term
Synonyms:primary_id: MESH:C566865;   RDO:0015085


show annotations for term's descendants           Sort by:
Ataxia-Telangiectasia Variant term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atm ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Ataxia - telangiectasia variant ClinVar PMID:581456 PMID:8755819 PMID:8755918 PMID:8808599 PMID:9000145 More... NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437 		JBrowse link
G C8h11orf65 similar to human chromosome 11 open reading frame 65 ISO ClinVar Annotator: match by term: Ataxia - telangiectasia variant ClinVar PMID:581456 PMID:8755819 PMID:8755918 PMID:8808599 PMID:9000145 More... NCBI chr 8:53,796,033...53,825,277
Ensembl chr 8:53,796,366...53,824,748 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21126
    syndrome 10839
      Neurocutaneous Syndromes 359
        ataxia telangiectasia 100
          Ataxia-Telangiectasia Variant 2
Path 2
Term Annotations click to browse term
  disease 21126
    disease of anatomical entity 18213
      nervous system disease 14061
        central nervous system disease 12398
          brain disease 11634
            movement disease 2576
              Dyskinesias 2190
                Ataxia 956
                  Spinocerebellar Ataxias 547
                    cerebellar ataxia 471
                      autosomal recessive cerebellar ataxia 162
                        ataxia telangiectasia 100
                          Ataxia-Telangiectasia Variant 2
paths to the root