DiseaseID 5197
West综合征
disease
HPO2016_07_04:A sudden flexion, extension or mixed extension-flexion of predominantly proximal and truncal muscles which is usually more sustained than a myoclonic movement but not as sustained as a tonic seizure. [HPO:j
Relationship Network
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Disease: 1Symptom: 7Target: 12Links: 19
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 5197
- Core Entity Id
- 61658
- Source Entity Count
- 1
- Preferred Name
- West Syndrome
- Name Cn
- West综合征
- Name Pinyin
- West Zong He Zheng
- Name En
- West Syndrome
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Nervous System Diseases
- Do Class
- disease of anatomical entity
- Hpo Class
- Abnormality of the eyeAbnormality of the nervous system
- Mesh Class Name
- Nervous System Diseases
- Hpo Class Name
- Abnormality of the eyeAbnormality of the nervous system
- Do Class Name
- disease of anatomical entity
- Disease Definition
- HPO2016_07_04:A sudden flexion, extension or mixed extension-flexion of predominantly proximal and truncal muscles which is usually more sustained than a myoclonic movement but not as sustained as a tonic seizure. [HPO:jalbers]
- Version
- v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
West Syndrome
Role
preferred
Name
Cryptogenic Infantile Spasms
Role
preferred
Name
Salaam Seizures
Role
preferred
Name
Salaam Spasms
Role
preferred
Name
Symptomatic Infantile Spasms
Role
preferred
Name
Hypsarrhythmia
Role
preferred
Name
Jackknife Seizures
Role
preferred
Name
Nodding Spasm
Role
preferred
Name
Spasmus Nutans
Role
preferred
Name
Epileptic Spasms
Role
alias
Name
Hypsarrhythmia By Eeg
Role
alias
Name
Salaam Convulsions
Role
alias
Name
Spasm, Nodding
Role
alias
Name
Spasms, Infantile
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Hpo
HP:0002521HP:0010533HP:0011097
Herb
HBDIS002791HBDIS008701HBDIS008702HBDIS010092HBDIS010150HBDIS010577HBDIS014446HBDIS014460
Me Sh
D013036
Umls
C0037769C0393698C0393699C0546878C1527366
Icd10
G40.82
Sym Map
SMDE07654SMDE12934SMDE12935SMDE13759SMDE14365
Do Class
DOID:7
Dis Ge Net
C0037769C0393698C0393699C0546878C0553558C0684276C1527306C1527366
Umls Sty
T033T047
Hpo Class
HP:0000478HP:0000707
Me Sh Class
C10
Tcmbank Disease
11308180372385252712544726473035038859849
Itcmdb Generated
ITX-DISEASE-406F9D9DE1C0ITX-DISEASE-63BF24C80B7EITX-DISEASE-86BC2C581399ITX-DISEASE-B76B631A3414ITX-DISEASE-C3DBAEE7E59D
Attributes
Merged source attributes and domain-specific metadata.
Version
v2
Suppress
0
Do Class Name
disease of anatomical entity
Disease Type
diseasephenotype
Hpo Class Name
Abnormality of the eyeAbnormality of the nervous system
Do Disease Class
disease of anatomical entity
Hpo Disease Class
Abnormality of the eyeAbnormality of the nervous system
Umls Disease Type
Disease or SyndromeFinding
Disease Definition
HPO2016_07_04:A sudden flexion, extension or mixed extension-flexion of predominantly proximal and truncal muscles which is usually more sustained than a myoclonic movement but not as sustained as a tonic seizure. [HPO:jalbers]HPO2016_07_04:The combination of pendular nystagmus, head nodding, and torticollis. [HPO:probinson, pmid:7499100]NCI2016_NICHD_1602D:A form of epilepsy presenting in the first years of life that is characterized by infantile spasms; a distinct high-voltage and disorganized electroencephalogram pattern called hypsarrhythmia; and cognitive dysfunction.|NCI2016_02D:A rare autosomal recessive inherited neurodegenerative disorder caused by mutations in the PLA2G6 gene. It is characterized by the development of swellings called spheroids along the axons of the central nervous system. Signs and symptoms appear early in life and include movement difficulties, muscle hypotonia and spasticity, and cognitive dysfunction.|MSH2017_2016_08_12:An epileptic syndrome characterized by the triad of infantile spasms, hypsarrhythmia, and arrest of psychomotor development at seizure onset. The majority present between 3-12 months of age, with spasms consisting of combinations of brief flexor or extensor movements of the head, trunk, and limbs. The condition is divided into two forms: cryptogenic (idiopathic) and symptomatic (secondary to a known disease process such as intrauterine infections; nervous system abnormalities; BRAIN DISEASES, METABOLIC, INBORN; prematurity; perinatal asphyxia; TUBEROUS SCLEROSIS; etc.). (From Menkes, Textbook of Child Neurology, 5th ed, pp744-8)|JABL99:Myoclonus epilepsy of infancy and early childhood, characterized by seizures involving the muscles of the neck, trunk, and limbs, and manifested by nodding of the head and flexion of the arms. The seizures are associated with brain abnormalities and frequent mental retardation.
Me Sh Disease Class
Nervous System Diseases
Dis Ge Net Disease Type
diseasephenotype
Disease Class Name Me Sh
Nervous System Diseases
Umls Semantic Type Name
Disease or SyndromeFinding