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- NCIT_C126688 IAO_0000115 "A usually autosomal dominant inherited movement disorder caused by mutations in the COL6A1, COL6A2, and COL6A3 genes. It is characterized by progressive muscle weakness and joint stiffness in the fingers, wrists, elbows, and ankles." @default.
- NCIT_C126688 NCIT_NHC0 "C126688" @default.
- NCIT_C126688 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C126688 NCIT_P108 "Bethlem Myopathy 1" @default.
- NCIT_C126688 NCIT_P207 "C1834674" @default.
- NCIT_C126688 NCIT_P322 "Cellosaurus" @default.
- NCIT_C126688 NCIT_R100 NCIT_C12219 @default.
- NCIT_C126688 NCIT_R100 NCIT_C12754 @default.
- NCIT_C126688 NCIT_R100 NCIT_C12801 @default.
- NCIT_C126688 NCIT_R100 NCIT_C12919 @default.
- NCIT_C126688 NCIT_R100 NCIT_C12964 @default.
- NCIT_C126688 NCIT_R103 NCIT_C12219 @default.
- NCIT_C126688 NCIT_R103 NCIT_C12471 @default.
- NCIT_C126688 NCIT_R103 NCIT_C12801 @default.
- NCIT_C126688 NCIT_R103 NCIT_C12964 @default.
- NCIT_C126688 NCIT_R135 NCIT_C12219 @default.
- NCIT_C126688 NCIT_R135 NCIT_C12366 @default.
- NCIT_C126688 NCIT_R135 NCIT_C25769 @default.
- NCIT_C126688 NCIT_R135 NCIT_C32221 @default.
- NCIT_C126688 NCIT_R135 NCIT_C34076 @default.
- NCIT_C126688 normalizedInformationContent "100" @default.
- NCIT_C126688 referenceCount "1" @default.
- NCIT_C126688 hasExactSynonym "BTHLM1" @default.
- NCIT_C126688 hasExactSynonym "Bethlem Myopathy 1" @default.
- NCIT_C126688 inSubset NCIT_C165258 @default.
- NCIT_C126688 inSubset NCIT_C192842 @default.
- NCIT_C126688 type Class @default.
- NCIT_C126688 isDefinedBy ncit.owl @default.
- NCIT_C126688 label "Bethlem Myopathy 1" @default.
- NCIT_C126688 subClassOf NCIT_C101216 @default.
- NCIT_C126688 subClassOf NCIT_C107377 @default.
- NCIT_C126688 subClassOf NCIT_C118317 @default.
- NCIT_C126688 subClassOf NCIT_C126688 @default.
- NCIT_C126688 subClassOf NCIT_C166355 @default.
- NCIT_C126688 subClassOf NCIT_C26326 @default.
- NCIT_C126688 subClassOf NCIT_C27042 @default.
- NCIT_C126688 subClassOf NCIT_C27551 @default.
- NCIT_C126688 subClassOf NCIT_C27573 @default.
- NCIT_C126688 subClassOf NCIT_C27574 @default.
- NCIT_C126688 subClassOf NCIT_C2991 @default.
- NCIT_C126688 subClassOf NCIT_C53529 @default.
- NCIT_C126688 subClassOf NCIT_C53531 @default.
- NCIT_C126688 subClassOf NCIT_C7057 @default.