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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 11834
    Pathological Conditions, Signs and Symptoms 7128
      Pathologic Processes 5198
        Disease Attributes 537
          Facies 254
            Spinocerebellar Ataxia with Dysmorphism 0
Path 2
Term Annotations click to browse term
  disease 11834
    disease of anatomical entity 11389
      nervous system disease 9331
        central nervous system disease 7910
          brain disease 7316
            movement disease 1025
              Dyskinesias 785
                Ataxia 353
                  Spinocerebellar Ataxias 270
                    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.