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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:autosomal dominant cerebellar ataxia type I
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Accession:EFO:MONDO:0019792 term browser browse the term
Definition:Autosomal dominant cerebellar ataxia (ADCA) type I is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement.
Synonyms:exact_synonym: ADCA1;   ADCAI;   autosomal dominant cerebellar ataxia type 1;   cerebellar plus syndrome
 alt_id: MONDO:0019792
 xref: GARD:19252;   MEDGEN:1842696;   ORDO:94145;   UMLS:C5680259


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Term paths to the root
Path 1
Term Annotations click to browse term
  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
                  Machado-Joseph disease + 0
                  autosomal dominant cerebellar ataxia, deafness and narcolepsy 0
                  cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome 0
                  cerebellar dysfunction with variable cognitive and behavioral abnormalities 0
                  spinocerebellar ataxia type 1 0
                  spinocerebellar ataxia type 12 0
                  spinocerebellar ataxia type 13 0
                  spinocerebellar ataxia type 14 0
                  spinocerebellar ataxia type 15/16 0
                  spinocerebellar ataxia type 17 0
                  spinocerebellar ataxia type 18 0
                  spinocerebellar ataxia type 19/22 0
                  spinocerebellar ataxia type 2 0
                  spinocerebellar ataxia type 20 0
                  spinocerebellar ataxia type 21 0
                  spinocerebellar ataxia type 23 0
                  spinocerebellar ataxia type 25 0
                  spinocerebellar ataxia type 27 + 0
                  spinocerebellar ataxia type 28 0
                  spinocerebellar ataxia type 29 0
                  spinocerebellar ataxia type 32 0
                  spinocerebellar ataxia type 34 0
                  spinocerebellar ataxia type 35 0
                  spinocerebellar ataxia type 36 0
                  spinocerebellar ataxia type 37 0
                  spinocerebellar ataxia type 4 0
                  spinocerebellar ataxia type 8 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
                            Machado-Joseph disease + 0
                            autosomal dominant cerebellar ataxia, deafness and narcolepsy 0
                            cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome 0
                            cerebellar dysfunction with variable cognitive and behavioral abnormalities 0
                            spinocerebellar ataxia type 1 0
                            spinocerebellar ataxia type 12 0
                            spinocerebellar ataxia type 13 0
                            spinocerebellar ataxia type 14 0
                            spinocerebellar ataxia type 15/16 0
                            spinocerebellar ataxia type 17 0
                            spinocerebellar ataxia type 18 0
                            spinocerebellar ataxia type 19/22 0
                            spinocerebellar ataxia type 2 0
                            spinocerebellar ataxia type 20 0
                            spinocerebellar ataxia type 21 0
                            spinocerebellar ataxia type 23 0
                            spinocerebellar ataxia type 25 0
                            spinocerebellar ataxia type 27 + 0
                            spinocerebellar ataxia type 28 0
                            spinocerebellar ataxia type 29 0
                            spinocerebellar ataxia type 32 0
                            spinocerebellar ataxia type 34 0
                            spinocerebellar ataxia type 35 0
                            spinocerebellar ataxia type 36 0
                            spinocerebellar ataxia type 37 0
                            spinocerebellar ataxia type 4 0
                            spinocerebellar ataxia type 8 0
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