Regulation of Transcription Ontology

Last uploaded: December 4, 2018
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Preferred Name

Spinocerebellar ataxia 5
Synonyms

SCA5
Definitions

(SCA5) - 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. SCA5 is an autosomal dominant cerebellar ataxia (ADCA). It is a slowly progressive disorder with variable age at onset, ranging between 10 and 50 years.
ID

http://identifiers.org/omim/600224
altLabel

SCA5
definition

(SCA5) - 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. SCA5 is an autosomal dominant cerebellar ataxia (ADCA). It is a slowly progressive disorder with variable age at onset, ranging between 10 and 50 years.
id

OMIM:600224
notation

OMIM:600224
prefLabel

Spinocerebellar ataxia 5
subClassOf

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