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Term:spinocerebellar ataxia type 1 with axonal neuropathy
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Accession:DOID:0090115 term browser browse the term
Definition:A nervous system disease characterized by autosomal recessive inheritance of spinocerebellar ataxia and peripheral neuropathy that has_material_basis_in homozygosity for a mutation in the TDP1 gene on chromosome 14q32.11. (DO)
Synonyms:exact_synonym: SCAN1;   autosomal recessive spinocerebellar ataxia with axonal neuropathy
 primary_id: MESH:C537313;   RDO:0003133
 alt_id: OMIM:607250
 xref: GARD:10000;   ORDO:94124
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spinocerebellar ataxia type 1 with axonal neuropathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tdp1 tyrosyl-DNA phosphodiesterase 1 JBrowse link 6 123,895,860 123,963,688 RGD:7240710
RGD:8554872

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Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        spinocerebellar ataxia type 1 with axonal neuropathy 1
Path 2
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  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        central nervous system disease 6892
          brain disease 6396
            cerebellar disease 310
              primary cerebellar degeneration 218
                spinocerebellar ataxia type 1 with axonal neuropathy 1
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