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Cigarette Smoke Exposure Ontology
Last uploaded:
July 10, 2014
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| Preferred Name | West Syndrome | |
| Synonyms |
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| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#West_Syndrome |
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| DEFINITION |
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 dementia.
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| FULL_SYN |
Infantile Spasm
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| isDefinedBy |
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 dementia.
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| label |
West Syndrome
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| prefixIRI |
Thesaurus:West_Syndrome
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| prefLabel |
West Syndrome
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| Synonym |
Infantile Spasm
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| subClassOf |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Rare_Non-Neoplastic_Disorder |
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