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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:Ataxia - oculomotor apraxia type 1
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Accession:EFO:Orphanet:1168 term browser browse the term
Definition:Ataxia-oculomotor apraxia type 1 (AOA1) is a form of autosomal recessive cerebellar ataxia (ARCA; see this term) characterized by a progressive cerebellar ataxia associated with oculomotor apraxia, choeroathetosis and severe peripheral neuropathy.
Comment:"orphanet"
Synonyms:exact_synonym: AOA1
 xref: ICD10:G11.3;   MIM:208920


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Path 1
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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          metabolic disease 0
            Disorder of energy metabolism 0
              Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies 0
                Ataxia - oculomotor apraxia type 1 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
              neurodegenerative disease 0
                Genetic neurodegenerative disease 0
                  Genetic neurodegenerative disease with dementia 0
                    Ataxia with dementia 0
                      Early-onset ataxia with dementia 0
                        Autosomal recessive cerebellar ataxia due to a DNA repair defect 0
                          Ataxia - oculomotor apraxia type 1 0
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