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- NCIT_C150608 IAO_0000115 "An autosomal recessive condition caused by mutation(s) in the RYR1 gene, encoding ryanodine receptor 1. It may be characterized clinically by neonatal hypotonia, delayed motor development, and generalized muscle weakness, and amyotrophy. Pathologically, the absence of mitochondria and focal disorganization of the sarcomere appear as "minicores" on ATPase staining as a result of focal defects in oxidative activity." @default.
- NCIT_C150608 NCIT_NHC0 "C150608" @default.
- NCIT_C150608 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C150608 NCIT_P107 "Minicore Myopathy with External Ophthalmoplegia" @default.
- NCIT_C150608 NCIT_P108 "Minicore Myopathy with External Ophthalmoplegia" @default.
- NCIT_C150608 NCIT_P207 "C1850674" @default.
- NCIT_C150608 NCIT_P322 "CTRP" @default.
- NCIT_C150608 NCIT_P322 "Cellosaurus" @default.
- NCIT_C150608 NCIT_R176 NCIT_C150311 @default.
- NCIT_C150608 NCIT_R176 NCIT_C16612 @default.
- NCIT_C150608 NCIT_R176 NCIT_C21295 @default.
- NCIT_C150608 NCIT_R176 NCIT_C25869 @default.
- NCIT_C150608 NCIT_R176 NCIT_C25993 @default.
- NCIT_C150608 NCIT_R176 NCIT_C26039 @default.
- NCIT_C150608 NCIT_R176 NCIT_C28533 @default.
- NCIT_C150608 normalizedInformationContent "100" @default.
- NCIT_C150608 referenceCount "1" @default.
- NCIT_C150608 hasExactSynonym "Minicore Myopathy with External Ophthalmoplegia" @default.
- NCIT_C150608 inSubset NCIT_C116977 @default.
- NCIT_C150608 inSubset NCIT_C118168 @default.
- NCIT_C150608 inSubset NCIT_C165258 @default.
- NCIT_C150608 inSubset NCIT_C192842 @default.
- NCIT_C150608 type Class @default.
- NCIT_C150608 isDefinedBy ncit.owl @default.
- NCIT_C150608 label "Minicore Myopathy with External Ophthalmoplegia" @default.
- NCIT_C150608 subClassOf B4f8312ec770109e5df03be6679be13c7 @default.
- NCIT_C150608 subClassOf B9d23f213e4ef89c7f1e68ceb878f348f @default.
- NCIT_C150608 subClassOf NCIT_C150608 @default.
- NCIT_C150608 subClassOf NCIT_C2991 @default.
- NCIT_C150608 subClassOf NCIT_C4873 @default.
- NCIT_C150608 subClassOf NCIT_C53529 @default.
- NCIT_C150608 subClassOf NCIT_C53543 @default.
- NCIT_C150608 subClassOf NCIT_C53547 @default.
- NCIT_C150608 subClassOf NCIT_C7057 @default.