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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
autosomal dominant cerebellar ataxia, deafness and narcolepsy 
cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome 
cerebellar dysfunction with variable cognitive and behavioral abnormalities 
Machado-Joseph disease +   
spinocerebellar ataxia type 1 
spinocerebellar ataxia type 12 
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.
spinocerebellar ataxia type 13 
spinocerebellar ataxia type 14 
spinocerebellar ataxia type 15/16 
spinocerebellar ataxia type 17 
spinocerebellar ataxia type 18 
spinocerebellar ataxia type 19/22 
spinocerebellar ataxia type 2 
spinocerebellar ataxia type 20 
spinocerebellar ataxia type 21 
spinocerebellar ataxia type 23 
spinocerebellar ataxia type 25 
spinocerebellar ataxia type 27 +  
spinocerebellar ataxia type 28 
spinocerebellar ataxia type 29 
spinocerebellar ataxia type 32 
spinocerebellar ataxia type 34 
spinocerebellar ataxia type 35 
spinocerebellar ataxia type 36 
spinocerebellar ataxia type 37 
spinocerebellar ataxia type 4 
spinocerebellar ataxia type 8 

Synonyms
Exact Synonyms: SCA12
Related Synonyms: spinocerebellar ataxia 12
Alternate IDs: MONDO:0011439
Xrefs: DOID:0050962 ;   GARD:10476 ;   MEDGEN:347653 ;   MESH:C565790 ;   MIM:604326 ;   NCI:C154316 ;   ORDO:98762 ;   SCTID:719208005 ;   UMLS:C1858501
Definition Sources: Orphanet:98762

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