DiseaseID 26364
脊髓小脑性共济失调6型
Spinocerebellar Ataxia 6
SNOMEDCT_US_2016_09_01:Main features described as late-onset and slowly progressive gait ataxia and other cerebellar signs such as impaired muscle coordination and nystagmus. The mean age of onset is 45 years but can ran
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Disease: 1Symptom: 1Target: 6Links: 7
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 26364
- Core Entity Id
- 118932
- Source Entity Count
- 1
- Preferred Name
- Spinocerebellar Ataxia 6
- Name Cn
- 脊髓小脑性共济失调6型
- Name Pinyin
- Ji Sui Xiao Nao Xing Gong Ji Shi Tiao 6 Xing
- Name En
- Spinocerebellar Ataxia 6
- Name Latin
- Bilingual Status
- complete
- Disease Type
- Umls Disease Type
- Disgenet Type
- Mesh Class
- Do Class
- Hpo Class
- Mesh Class Name
- Hpo Class Name
- Do Class Name
- Disease Definition
- SNOMEDCT_US_2016_09_01:Main features described as late-onset and slowly progressive gait ataxia and other cerebellar signs such as impaired muscle coordination and nystagmus. The mean age of onset is 45 years but can range from the ages of 16 to 72 years. It usually presents with the cerebellar signs of ataxia and dysarthria as well as dysphagia. Some patients also have episodic vertigo and diplopia. Parkinsonism, dystonia, myoclonus, tremor and cognitive impairment have been reported in rare cases.
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Spinocerebellar Ataxia 6
Role
preferred
Source
SymMap_v2
Preferred
Yes
Cross References
Trusted external identifiers retained for this final record.
Umls
C0752124
Sym Map
SMDE03124
Attributes
Merged source attributes and domain-specific metadata.
Version
v1
Suppress
0
Disease Definition
SNOMEDCT_US_2016_09_01:Main features described as late-onset and slowly progressive gait ataxia and other cerebellar signs such as impaired muscle coordination and nystagmus. The mean age of onset is 45 years but can range from the ages of 16 to 72 years. It usually presents with the cerebellar signs of ataxia and dysarthria as well as dysphagia. Some patients also have episodic vertigo and diplopia. Parkinsonism, dystonia, myoclonus, tremor and cognitive impairment have been reported in rare cases.