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- B1a0378a4c20bdcc447169880217f1409 NCIT_P378 "NCI" @default.
- B1a0378a4c20bdcc447169880217f1409 type Axiom @default.
- B1a0378a4c20bdcc447169880217f1409 annotatedProperty IAO_0000115 @default.
- B1a0378a4c20bdcc447169880217f1409 annotatedSource NCIT_C122787 @default.
- B1a0378a4c20bdcc447169880217f1409 annotatedTarget "A group of rare skeletal muscle ion-channel disorders caused by genetic mutations in the sodium and chloride channel genes. It is characterized by altered membrane excitability resulting in skeletal muscle stiffness. This group of myotonias is distinct from myotonic dystrophy because of the absence of systemic features or progressive weakness." @default.