ONTOLOGY REPORT - ANNOTATIONS


Term:spastic ataxia
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Accession:DOID:0050952 term browser browse the term
Definition:A hereditary ataxia that is characterized by early onset of cerebellar ataxia, pyramidal tract signs and peripheral neuropathy. (DO)
Synonyms:primary_id: MESH:C564815
 alt_id: RDO:0013648
 xref: OMIM:PS108600
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spastic ataxia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Afg3l2 AFG3 like matrix AAA peptidase subunit 2 JBrowse link 18 63,141,418 63,185,510 RGD:11532672
G Inca1 inhibitor of CDK, cyclin A1 interacting protein 1 JBrowse link 10 57,309,722 57,322,140 RGD:8554872
G Kcnma1 potassium calcium-activated channel subfamily M alpha 1 JBrowse link 15 344,204 1,048,849 RGD:8554872
G Kif1c kinesin family member 1C JBrowse link 10 57,322,259 57,352,395 RGD:8554872
ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kcnma1 potassium calcium-activated channel subfamily M alpha 1 JBrowse link 15 344,204 1,048,849 RGD:8554872
Charlevoix-Saguenay spastic ataxia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sacs sacsin molecular chaperone JBrowse link 15 41,448,078 41,530,412 RGD:7240710
RGD:8554872
G Sgcg sarcoglycan, gamma JBrowse link 15 41,549,330 41,595,275 RGD:8554872
G Spg7 SPG7 matrix AAA peptidase subunit, paraplegin JBrowse link 19 55,880,549 55,914,729 RGD:8554872
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
spastic ataxia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Inca1 inhibitor of CDK, cyclin A1 interacting protein 1 JBrowse link 10 57,309,722 57,322,140 RGD:8554872
G Kif1c kinesin family member 1C JBrowse link 10 57,322,259 57,352,395 RGD:7240710
RGD:8554872
spastic ataxia 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mars2 methionyl-tRNA synthetase 2, mitochondrial JBrowse link 9 64,434,814 64,437,730 RGD:7240710
RGD:8554872
spastic ataxia 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mtpap mitochondrial poly(A) polymerase JBrowse link 17 56,046,507 56,068,185 RGD:7240710
RGD:8554872
spastic ataxia 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Afg3l2 AFG3 like matrix AAA peptidase subunit 2 JBrowse link 18 63,141,418 63,185,510 RGD:7240710
RGD:8554872
spastic ataxia 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nkx6-2 NK6 homeobox 2 JBrowse link 1 211,922,389 211,923,929 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14926
    Developmental Diseases 7774
      Neurodevelopmental Disorders 2768
        intellectual disability 1596
          spastic ataxia 12
            ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION 1
            Charlevoix-Saguenay spastic ataxia 3
            spastic ataxia 1 2
            spastic ataxia 2 2
            spastic ataxia 3 1
            spastic ataxia 4 1
            spastic ataxia 5 1
            spastic ataxia 7 0
            spastic ataxia 8 1
Path 2
Term Annotations click to browse term
  disease 14926
    disease of anatomical entity 14092
      nervous system disease 9154
        central nervous system disease 6950
          brain disease 6456
            disease of mental health 4348
              developmental disorder of mental health 2603
                specific developmental disorder 1767
                  intellectual disability 1596
                    spastic ataxia 12
                      ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION 1
                      Charlevoix-Saguenay spastic ataxia 3
                      spastic ataxia 1 2
                      spastic ataxia 2 2
                      spastic ataxia 3 1
                      spastic ataxia 4 1
                      spastic ataxia 5 1
                      spastic ataxia 7 0
                      spastic ataxia 8 1
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.