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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:spinocerebellar ataxia type 12
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Accession:EFO:MONDO:0011439 term browser browse the term
Definition:Spinocerebellar ataxia type 12 (SCA12) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by the presence of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported.
Synonyms:exact_synonym: SCA12
 related_synonym: spinocerebellar ataxia 12
 alt_id: MONDO:0011439
 xref: DOID:0050962;   GARD:10476;   MEDGEN:347653;   MESH:C565790;   MIM:604326;   NCI:C154316;   ORDO:98762;   SCTID:719208005;   UMLS:C1858501


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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          genetic disorder 0
            hereditary dementia 0
              autosomal dominant cerebellar ataxia 0
                autosomal dominant cerebellar ataxia type I 0
                  spinocerebellar ataxia type 12 0
Path 2
Term Annotations click to browse term
  experimental factor 0
    material property 0
      disposition 0
        disease 0
          nervous system disease 0
            central nervous system disease 0
              brain disease 0
                mental or behavioural disorder 0
                  cognitive disorder 0
                    dementia 0
                      hereditary dementia 0
                        autosomal dominant cerebellar ataxia 0
                          autosomal dominant cerebellar ataxia type I 0
                            spinocerebellar ataxia type 12 0
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