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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:autosomal dominant cerebellar ataxia
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Accession:EFO:MONDO:0020380 term browser browse the term
Definition:A clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1). In ACDA type 4, a cerebellar syndrome is associated with epilepsy.
Synonyms:exact_synonym: ADCA;   Autosomal Dominant Hereditary Ataxia;   autosomal dominant spinocerebellar ataxia
 broad_synonym: SCA;   spinocerebellar ataxia
 related_synonym: Pierre Marie cerebellar ataxia (formerly)
 alt_id: MONDO:0020380
 xref: DOID:1441;   GARD:4346;   ICD9:334.3;   MEDGEN:1684639;   MIM:PS164400;   NORD:825;   ORDO:99;   SCTID:129609000;   UMLS:C4087347
 external_ontology: disease_has_major_feature EFO:MONDO:0001627


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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
                autosomal dominant cerebellar ataxia type II 0
                autosomal dominant cerebellar ataxia type III + 0
                autosomal dominant cerebellar ataxia type IV + 0
                spinocerebellar ataxia 27A 0
                spinocerebellar ataxia 43 0
                spinocerebellar ataxia 47 0
                spinocerebellar ataxia 49 0
                spinocerebellar ataxia 51 0
                spinocerebellar ataxia, autosomal recessive 24 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
                          autosomal dominant cerebellar ataxia type II 0
                          autosomal dominant cerebellar ataxia type III + 0
                          autosomal dominant cerebellar ataxia type IV + 0
                          spinocerebellar ataxia 27A 0
                          spinocerebellar ataxia 43 0
                          spinocerebellar ataxia 47 0
                          spinocerebellar ataxia 49 0
                          spinocerebellar ataxia 51 0
                          spinocerebellar ataxia, autosomal recessive 24 0
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