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- B6832bb1de8f0ffc591669c8acde68a78 NCIT_P378 "NCI" @default.
- B6832bb1de8f0ffc591669c8acde68a78 type Axiom @default.
- B6832bb1de8f0ffc591669c8acde68a78 annotatedProperty IAO_0000115 @default.
- B6832bb1de8f0ffc591669c8acde68a78 annotatedSource NCIT_C84927 @default.
- B6832bb1de8f0ffc591669c8acde68a78 annotatedTarget "A rare autosomal recessive neurodegenerative disorder caused by mutations in the PLA2G6 gene. It is characterized by the development of swellings called spehroids 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." @default.