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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:spastic ataxia 7
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Accession:DOID:0050945 term browser browse the term
Definition:A spastic ataxia that is characterized by poor visual acuity, cerebellar ataxia, dysarthria and pyramidal signs. (DO)
Synonyms:exact_synonym: SPAX7;   spastic ataxia 7, autosomal dominant;   spastic ataxia with congenital miosis
 primary_id: OMIM:108650
 alt_id: DOID:9000811;   MESH:C566247


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14398
      Neurodevelopmental Disorders 6845
        intellectual disability 4301
          spastic ataxia 83
            spastic ataxia 7 0
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18248
      nervous system disease 14089
        central nervous system disease 12429
          brain disease 11667
            movement disease 2582
              Dyskinesias 2196
                Ataxia 962
                  hereditary ataxia 640
                    spastic ataxia 83
                      spastic ataxia 7 0
paths to the root