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Biological and Environmental Research Ontology
Last uploaded:
December 23, 2022
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| Preferred Name | West Syndrome | |
| Synonyms |
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| Definitions |
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. |
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| ID |
http://purl.obolibrary.org/obo/NCIT_C84788 |
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| ALT_DEFINITION |
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.
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| code |
C84788
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| Contributing_Source |
Cellosaurus MedDRA NICHD
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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 cognitive dysfunction.
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| in_subset |
http://purl.obolibrary.org/obo/NCIT_C90259 |
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| label |
West Syndrome
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| Maps_To |
West's syndrome
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| Preferred_Name |
West Syndrome
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| prefixIRI |
NCIT:C84788
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| prefLabel |
West Syndrome
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| Semantic_Type |
Disease or Syndrome
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| UMLS_CUI |
C0037769
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| subClassOf |
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