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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

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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 Annotator: match by term: Ataxia-telangiectasia variant ClinVar PMID:581456 PMID:8755819 PMID:8755918 PMID:8808599 PMID:9000145 More... NCBI chrNW_004624784:2,933,172...3,080,131
Ensembl chrNW_004624784:2,937,499...3,078,216 		JBrowse link
G CUNH11orf65 chromosome unknown C11orf65 homolog ISO ClinVar Annotator: match by term: Ataxia - telangiectasia variant | ClinVar Annotator: match by term: Ataxia-telangiectasia variant ClinVar PMID:581456 PMID:8755819 PMID:8755918 PMID:8808599 PMID:9000145 More... NCBI chrNW_004624784:3,083,664...3,144,017
Ensembl chrNW_004624784:3,084,385...3,145,517 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14208
    syndrome 9641
      Neurocutaneous Syndromes 341
        ataxia telangiectasia 96
          Ataxia-Telangiectasia Variant 2
Path 2
Term Annotations click to browse term
  disease 14208
    disease of anatomical entity 13924
      nervous system disease 12255
        central nervous system disease 10971
          brain disease 10296
            movement disease 2375
              Dyskinesias 2029
                Ataxia 867
                  Spinocerebellar Ataxias 523
                    cerebellar ataxia 450
                      autosomal recessive cerebellar ataxia 159
                        ataxia telangiectasia 96
                          Ataxia-Telangiectasia Variant 2
paths to the root