DiseaseID 2476
2型脊髓小脑性共济失调
disease
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
Relationship Network
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Disease: 1Symptom: 3Target: 12Links: 15
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 2476
- Core Entity Id
- 2795
- Source Entity Count
- 1
- Preferred Name
- Ataxia, Spinocerebellar
- Name Cn
- 2型脊髓小脑性共济失调
- Name Pinyin
- 2 Xing Ji Sui Xiao Nao Xing Gong Ji Shi Tiao
- Name En
- Spinocerebellar Ataxia Type 2
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
- Do Class
- disease of anatomical entity; genetic disease
- Hpo Class
- Abnormality of the nervous system
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
- Hpo Class Name
- Abnormality of the nervous system
- Do Class Name
- genetic disease; disease of anatomical entity
- Disease Definition
- 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]
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Ataxia, Spinocerebellar
Role
preferred
Name
Als13
Role
preferred
Name
Spinocerebellar Ataxia 2
Role
preferred
Name
Spinocerebellar Ataxia Type 2
Role
preferred
Name
Amyotrophic Lateral Sclerosis, Susceptibility To, 13
Role
preferred
Name
Spinocerebellar Ataxia Type 1
Role
preferred
Name
Spinocerebellar Ataxia Type 4
Role
preferred
Name
Spinocerebellar Ataxia Type 5
Role
preferred
Name
Spinocerebellar Ataxia Type 6 (Disorder)
Role
preferred
Name
Spinocerebellar Ataxia Type 7
Role
preferred
Name
Ataxia 6S, Spinocerebellar
Role
alias
Name
Autosomal Dominant Cerebellar Ataxia
Role
alias
Name
CEREBELLAR DEGENERATION WITH SLOW EYE MOVEMENTS
Role
alias
Name
OLIVOPONTOCEREBELLAR ATROPHY II
Role
alias
Name
OLIVOPONTOCEREBELLAR ATROPHY, HOLGUIN TYPE
Role
alias
Name
OPCA2
Role
alias
Name
Olivopontocerebellar Atrophy I
Role
alias
Name
SCA2
Role
alias
Name
SDSEM
Role
alias
Name
SPINOCEREBELLAR ATAXIA, CUBAN TYPE
Role
alias
Name
SPINOCEREBELLAR ATROPHY II
Role
alias
Name
SPINOCEREBELLAR DEGENERATION WITH SLOW EYE MOVEMENTS
Role
alias
Name
Spinocerebellar Ataxia 1
Role
alias
Name
Spinocerebellar Ataxia 4
Role
alias
Name
Spinocerebellar Ataxia 5
Role
alias
Name
Spinocerebellar Ataxia 6
Role
alias
Name
Spinocerebellar Ataxia 7
Role
alias
Name
Spinocerebellar Ataxia Type 6
Role
alias
Name
Spinocerebellar Ataxias
Role
alias
Name
Spinocerebellar Atrophy
Role
alias
Name
WADIA-SWAMI SYNDROME
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Hpo
HP:0007263
Herb
HBDIS003440HBDIS011544HBDIS011545HBDIS011546HBDIS011547HBDIS011548HBDIS011549HBDIS029244
Me Sh
D020754
Omim
164400164500183086183090271322600223600224
Umls
C0087012C0752121C3149907
Sym Map
SMDE01140SMDE05062SMDE05737SMDE06108SMDE13356
Do Class
DOID:630DOID:7
Dis Ge Net
C0087012C0752120C0752121C0752122C0752123C0752124C0752125C3149907
Umls Sty
T033T047
Hpo Class
HP:0000707
Me Sh Class
C10C16
Tcmbank Disease
1125021476240852930675686382288830
Itcmdb Generated
ITX-DISEASE-00D29460E665ITX-DISEASE-758609AC1AD3ITX-DISEASE-B3C473B60808
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v2
Suppress
01
Do Class Name
genetic disease; disease of anatomical entity
Disease Type
disease
Hpo Class Name
Abnormality of the nervous system
Link Disease Id
3863.0
Do Disease Class
disease of anatomical entity; genetic disease
Hpo Disease Class
Abnormality of the nervous system
Umls Disease Type
Disease or SyndromeFinding
Disease Definition
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]SNOMEDCT_US_2016_09_01:Main features described as truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea. Presents in the third or fourth decade, Parkinsonism is also a less common but well-documented manifestation. There is no distinct clinical feature that reliably distinguishes type 1 from type 2 although tremor and autonomic dysfunction are more common in type 2.Spinocerebellar ataxia type 5 (SCA5) is a rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III; see this term) characterized by the early-onset of cerebellar signs with eye mov
Me Sh Disease Class
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
Dis Ge Net Disease Type
diseasephenotype
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
Umls Semantic Type Name
Disease or Syndrome