01
AFG3L2
No data
- Entity Type
- Diseases
- Relation Groups
- 1
- Relation Preview
- 8
Basic Information
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Core Information
- Disease Name
- Ataxia, Spinocerebellar
- Standard Disease Name
- ataxia, spinocerebellar
- MeSH Tree
- No data
- ICD-10
- No data
Identifiers
- DO ID
- No data
- MeSH ID
- D020754
- OMIM ID
- MTHU004242
- UMLS ID
- C0087012
- HPO ID
- No data
Description and Extensions
- Description
- NCI2016_02D:An inherited disorder characterized by degeneration of the spinal cord and the cerebellum. Symptoms may appear at any age and include progressive loss of coordination of gait, hands, speech, and eye movements.|MSH2017_2016_08_12:A group of dominantly inherited, predominately late-onset, cerebellar ataxias which have been divided into multiple subtypes based on clinical features and genetic mapping. Progressive ataxia is a central feature of these conditions, and in certain subtypes POLYNEUROPATHY; DYSARTHRIA; visual loss; and other disorders may develop. (From Joynt, Clinical Neurology, 1997, Ch65, pp 12-17; J Neuropathol Exp Neurol 1998 Jun;57(6):531-43)|HPO2016_07_04:Atrophy affecting the cerebellum and the spinocerebellar tracts of the spinal cord. [HPO:probinson]
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