DiseaseID 25717
脊髓小脑性共济失调7型
Spinocerebellar Ataxia 7
SNOMEDCT_US_2016_09_01:A neurodegenerative disorder with progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness. Manifestations that present in inf
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Disease: 1Symptom: 2Target: 9Links: 11
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 25717
- Core Entity Id
- 118285
- Source Entity Count
- 1
- Preferred Name
- Spinocerebellar Ataxia 7
- Name Cn
- 脊髓小脑性共济失调7型
- Name Pinyin
- Ji Sui Xiao Nao Xing Gong Ji Shi Tiao 7 Xing
- Name En
- Spinocerebellar Ataxia 7
- 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:A neurodegenerative disorder with progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness. Manifestations that present in infancy and early childhood include muscle weakness, wasting, hypotonia, poor feeding, failure to thrive and loss of motor milestones. Inherited autosomal dominantly. The prognosis depends on the age of symptom onset. An earlier onset is associated with a more severe and rapidly progressive disease.|MSH2017_2016_08_12:A group of dominantly inherited, predominatly 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)
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Spinocerebellar Ataxia 7
Role
preferred
Source
SymMap_v2
Preferred
Yes
Cross References
Trusted external identifiers retained for this final record.
Umls
C0752125
Sym Map
SMDE00020
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Disease Definition
SNOMEDCT_US_2016_09_01:A neurodegenerative disorder with progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness. Manifestations that present in infancy and early childhood include muscle weakness, wasting, hypotonia, poor feeding, failure to thrive and loss of motor milestones. Inherited autosomal dominantly. The prognosis depends on the age of symptom onset. An earlier onset is associated with a more severe and rapidly progressive disease.|MSH2017_2016_08_12:A group of dominantly inherited, predominatly 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)