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- NCIT_C84788 IAO_0000115 "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." @default.
- NCIT_C84788 NCIT_NHC0 "C84788" @default.
- NCIT_C84788 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C84788 NCIT_P108 "West Syndrome" @default.
- NCIT_C84788 NCIT_P207 "C0037769" @default.
- NCIT_C84788 NCIT_P322 "Cellosaurus" @default.
- NCIT_C84788 NCIT_P322 "MedDRA" @default.
- NCIT_C84788 NCIT_P322 "NICHD" @default.
- NCIT_C84788 NCIT_P325 "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." @default.
- NCIT_C84788 NCIT_P375 "West's syndrome" @default.
- NCIT_C84788 NCIT_R176 NCIT_C16612 @default.
- NCIT_C84788 NCIT_R176 NCIT_C21281 @default.
- NCIT_C84788 NCIT_R176 NCIT_C25804 @default.
- NCIT_C84788 NCIT_R176 NCIT_C25952 @default.
- NCIT_C84788 NCIT_R176 NCIT_C38597 @default.
- NCIT_C84788 normalizedInformationContent "100" @default.
- NCIT_C84788 referenceCount "1" @default.
- NCIT_C84788 hasExactSynonym "West Syndrome" @default.
- NCIT_C84788 inSubset NCIT_C118464 @default.
- NCIT_C84788 inSubset NCIT_C165258 @default.
- NCIT_C84788 inSubset NCIT_C189762 @default.
- NCIT_C84788 inSubset NCIT_C192842 @default.
- NCIT_C84788 inSubset NCIT_C90259 @default.
- NCIT_C84788 type Class @default.
- NCIT_C84788 isDefinedBy ncit.owl @default.
- NCIT_C84788 label "West Syndrome" @default.
- NCIT_C84788 subClassOf B43ab09b500e682a1c32cb0d1fb0f163f @default.
- NCIT_C84788 subClassOf B78b693c4c1753707c6143c5a3eefa81b @default.
- NCIT_C84788 subClassOf NCIT_C28193 @default.
- NCIT_C84788 subClassOf NCIT_C2991 @default.
- NCIT_C84788 subClassOf NCIT_C4873 @default.
- NCIT_C84788 subClassOf NCIT_C53529 @default.
- NCIT_C84788 subClassOf NCIT_C53543 @default.
- NCIT_C84788 subClassOf NCIT_C53547 @default.
- NCIT_C84788 subClassOf NCIT_C7057 @default.
- NCIT_C84788 subClassOf NCIT_C84788 @default.