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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:spinocerebellar ataxia type 28
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Accession:EFO:MONDO:0012450 term browser browse the term
Definition:Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration.
Synonyms:exact_synonym: SCA28
 related_synonym: spinocerebellar ataxia 28
 alt_id: MONDO:0012450
 xref: DOID:0050977;   GARD:9951;   MEDGEN:339941;   MESH:C537205;   MIM:610246;   ORDO:101109;   SCTID:715824008;   UMLS:C1853249


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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          mitochondrial disease 0
            inborn mitochondrial metabolism disorder 0
              mitochondrial oxidative phosphorylation disorder 0
                spinocerebellar ataxia type 28 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 28 0
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