DiseaseID 26440
脊髓小脑性共济失调1型
Spinocerebellar Ataxia 1
SNOMEDCT_US_2016_09_01:Main features described as dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities. The disease typically presents in the fourth decade. Ataxia gradually pr
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Disease: 1Symptom: 1Target: 12Links: 13
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 26440
- Core Entity Id
- 119008
- Source Entity Count
- 1
- Preferred Name
- Spinocerebellar Ataxia 1
- Name Cn
- 脊髓小脑性共济失调1型
- Name Pinyin
- Ji Sui Xiao Nao Xing Gong Ji Shi Tiao 1 Xing
- Name En
- Spinocerebellar Ataxia 1
- 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 dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities. The disease typically presents in the fourth decade. Ataxia gradually progresses and additional features may emerge including proprioceptive loss, hypoactive reflexes, ophthalmoparesis, and mild optic neuropathy. Initial presentation with blepharospasm, oromandibular dystonia, and retrocollis preceding ataxia has been reported. Caused by CAG repeat expansions in the ATXN1 gene region on chromosome 6p23.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Spinocerebellar Ataxia 1
Role
preferred
Source
SymMap_v2
Preferred
Yes
Cross References
Trusted external identifiers retained for this final record.
Umls
C0752120
Sym Map
SMDE03466
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Disease Definition
SNOMEDCT_US_2016_09_01:Main features described as dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities. The disease typically presents in the fourth decade. Ataxia gradually progresses and additional features may emerge including proprioceptive loss, hypoactive reflexes, ophthalmoparesis, and mild optic neuropathy. Initial presentation with blepharospasm, oromandibular dystonia, and retrocollis preceding ataxia has been reported. Caused by CAG repeat expansions in the ATXN1 gene region on chromosome 6p23.