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- NCIT_C126689 IAO_0000115 "A myopathy inherited in an autosomal dominant or recessive pattern, caused by mutations in the DNM2, BIN1, and TTN genes. Microscopically there is central displacement of the nucleus in muscle cells. It is characterized by muscle weakness and atrophy in the skeletal muscles." @default.
- NCIT_C126689 NCIT_NHC0 "C126689" @default.
- NCIT_C126689 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C126689 NCIT_P108 "Centronuclear Myopathy 1" @default.
- NCIT_C126689 NCIT_P207 "C1834558" @default.
- NCIT_C126689 NCIT_P322 "Cellosaurus" @default.
- NCIT_C126689 NCIT_R100 NCIT_C12219 @default.
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- NCIT_C126689 NCIT_R100 NCIT_C12801 @default.
- NCIT_C126689 NCIT_R100 NCIT_C12919 @default.
- NCIT_C126689 NCIT_R100 NCIT_C12964 @default.
- NCIT_C126689 NCIT_R103 NCIT_C12219 @default.
- NCIT_C126689 NCIT_R103 NCIT_C12471 @default.
- NCIT_C126689 NCIT_R103 NCIT_C12801 @default.
- NCIT_C126689 NCIT_R103 NCIT_C12964 @default.
- NCIT_C126689 NCIT_R135 NCIT_C12219 @default.
- NCIT_C126689 NCIT_R135 NCIT_C12366 @default.
- NCIT_C126689 NCIT_R135 NCIT_C25769 @default.
- NCIT_C126689 NCIT_R135 NCIT_C32221 @default.
- NCIT_C126689 NCIT_R135 NCIT_C34076 @default.
- NCIT_C126689 normalizedInformationContent "100" @default.
- NCIT_C126689 referenceCount "1" @default.
- NCIT_C126689 hasExactSynonym "CNM1" @default.
- NCIT_C126689 hasExactSynonym "Centronuclear Myopathy 1" @default.
- NCIT_C126689 inSubset NCIT_C165258 @default.
- NCIT_C126689 inSubset NCIT_C192842 @default.
- NCIT_C126689 type Class @default.
- NCIT_C126689 isDefinedBy ncit.owl @default.
- NCIT_C126689 label "Centronuclear Myopathy 1" @default.
- NCIT_C126689 subClassOf NCIT_C101216 @default.
- NCIT_C126689 subClassOf NCIT_C107377 @default.
- NCIT_C126689 subClassOf NCIT_C118317 @default.
- NCIT_C126689 subClassOf NCIT_C126689 @default.
- NCIT_C126689 subClassOf NCIT_C166355 @default.
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- NCIT_C126689 subClassOf NCIT_C53547 @default.
- NCIT_C126689 subClassOf NCIT_C7057 @default.
- NCIT_C126689 subClassOf NCIT_C84648 @default.