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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:Spinocerebellar Ataxia with Dysmorphism
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Accession:DOID:9005852 term browser browse the term
Synonyms:primary_id: MESH:C564802
 alt_id: OMIM:271270
For additional species annotation, visit the Alliance of Genome Resources.


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18864
    Pathological Conditions, Signs and Symptoms 9687
      Pathologic Processes 6785
        Disease Attributes 623
          Facies 287
            Spinocerebellar Ataxia with Dysmorphism 0
Path 2
Term Annotations click to browse term
  disease 18864
    disease of anatomical entity 17349
      nervous system disease 13439
        central nervous system disease 11499
          brain disease 10682
            movement disease 1317
              Dyskinesias 921
                Ataxia 415
                  Spinocerebellar Ataxias 311
                    Spinocerebellar Ataxia with Dysmorphism 0
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.