01
ARX
No data
- Entity Type
- Diseases
- Relation Groups
- 1
- Relation Preview
- 8
Basic Information
Grouped by core information, identifiers, and descriptions.
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Core Information
- Disease Name
- West Syndrome
- Standard Disease Name
- west syndrome
- MeSH Tree
- No data
- ICD-10
- G40.82
Identifiers
- DO ID
- No data
- MeSH ID
- D013036
- OMIM ID
- MTHU021431
- UMLS ID
- C0037769
- HPO ID
- No data
Description and Extensions
- Description
- 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.
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