DiseaseID 14554

脊髓小脑性共济失调伴癫痫

disease

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Disease: 1Symptom: 9Target: 7Links: 16
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Record Fields

Scalar fields from the final disease record.

Disease Id
14554
Core Entity Id
72357
Source Entity Count
1
Preferred Name
Spinocerebellar Ataxia With Epilepsy
Name Cn
脊髓小脑性共济失调伴癫痫
Name Pinyin
Ji Sui Xiao Nao Xing Gong Ji Shi Tiao Ban Dian Xian
Name En
Spinocerebellar Ataxia With Epilepsy
Name Latin
Bilingual Status
complete
Disease Type
disease
Umls Disease Type
Disease or Syndrome
Disgenet Type
disease
Mesh Class
Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Pathological Conditions, Signs and SymptomsNervous System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
Do Class
genetic disease; disease of metabolism
Hpo Class
Mesh Class Name
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
Hpo Class Name
Do Class Name
disease of metabolism; genetic disease
Disease Definition
Version
v1,v2
Suppressed
No

Names

Preferred names, aliases, and source labels retained in the final schema.

Name
Spinocerebellar Ataxia With Epilepsy
Role
preferred
Name
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Role
preferred
Name
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, DIGENIC
Role
preferred
Name
EPILEPSY, PROGRESSIVE MYOCLONIC, 5, FORMERLY
Role
alias
Name
EPILEPSY, PROGRESSIVE MYOCLONIC, WITH SENSORY ATAXIC NEUROPATHY
Role
alias
Name
EPM5, FORMERLY
Role
alias
Name
SANDO
Role
alias
Name
SCAE
Role
alias
Name
SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE
Role
alias

Cross References

Trusted external identifiers retained for this final record.

Herb
HBDIS016060HBDIS016061HBDIS018418
Omim
607459
Umls
C1843851C1843852C4225409C4225440
Sym Map
SMDE02609SMDE13357
Do Class
DOID:0014667DOID:630
Dis Ge Net
C1843851C1843852C1868097
Umls Sty
T033T047
Me Sh Class
C10C11C16C18C23
Tcmbank Disease
162542098527161

Attributes

Merged source attributes and domain-specific metadata.

Version
v1,v2v2
Suppress
0
Do Class Name
disease of metabolism; genetic disease
Disease Type
disease
Do Disease Class
genetic disease; disease of metabolism
Umls Disease Type
Disease or SyndromeFinding
Me Sh Disease Class
Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Pathological Conditions, Signs and SymptomsNervous System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
Umls Semantic Type Name
Disease or SyndromeFinding