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- B5d8ef5f4911d7c040ec2542106c631a5 NCIT_P378 "NCI" @default.
- B5d8ef5f4911d7c040ec2542106c631a5 type Axiom @default.
- B5d8ef5f4911d7c040ec2542106c631a5 annotatedProperty IAO_0000115 @default.
- B5d8ef5f4911d7c040ec2542106c631a5 annotatedSource NCIT_C84728 @default.
- B5d8ef5f4911d7c040ec2542106c631a5 annotatedTarget "A rare inherited disorder affecting the neurofilaments. It is caused by mutations in the GAN gene. It is characterized by the presence of abnormally large nerve cell axons. Signs and symptoms include difficulty walking, sensory disturbances, lack of motor coordination and abnormal reflexes in the limbs." @default.