Cell Cycle Ontology

Last uploaded: June 26, 2014
Preferred Name

Spinocerebellar ataxia 6
Synonyms
Definitions

(SCA6): Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA6 is an autosomal dominant cerebellar ataxia (ADCA), mainly caused by expansion of a CAG repeat in the coding region of CACNA1A. There seems to be a correlation between the repeat number and earlier onset of the disorder.

ID

http://purl.obolibrary.org/obo/OMIM_183086

definition

(SCA6): Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA6 is an autosomal dominant cerebellar ataxia (ADCA), mainly caused by expansion of a CAG repeat in the coding region of CACNA1A. There seems to be a correlation between the repeat number and earlier onset of the disorder.

has_obo_namespace

cell_cycle_ontology

id

OMIM:183086

label

Spinocerebellar ataxia 6

notation

OMIM:183086

prefLabel

Spinocerebellar ataxia 6

treeView

http://purl.obolibrary.org/obo/OGMS_0000031

subClassOf

http://purl.obolibrary.org/obo/OGMS_0000031

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