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ONTOLOGY REPORT - ANNOTATIONS


Term:spastic ataxia 1
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Accession:DOID:0050772 term browser browse the term
Definition:A spastic ataxia characterized by early-onset cerebellar ataxia, spasticity, pyramidal syndrome and peripheral neuropathy, has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the VAMP1 gene on chromosome 12p13. (DO)
Synonyms:exact_synonym: Ataxia, Spastic, 1, Autosomal Dominant;   SPAX1
 primary_id: MESH:C566993;   RDO:0015183
 alt_id: OMIM:108600;   RDO:0007887
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spastic ataxia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tapbpl TAP binding protein-like JBrowse link 4 157,735,748 157,743,199 RGD:8554872
G Vamp1 vesicle-associated membrane protein 1 JBrowse link 4 157,726,941 157,733,644 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15590
    Developmental Diseases 8723
      Neurodevelopmental Disorders 4047
        intellectual disability 1685
          spastic ataxia 13
            spastic ataxia 1 2
Path 2
Term Annotations click to browse term
  disease 15590
    disease of anatomical entity 14919
      nervous system disease 10196
        central nervous system disease 8075
          brain disease 7543
            movement disease 999
              Dyskinesias 709
                Ataxia 300
                  Spinocerebellar Ataxias 198
                    spastic ataxia 13
                      spastic ataxia 1 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.