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- NCIT_C129870 IAO_0000115 "An inherited myopathy caused by mutations in the ACTA1 gene, encoding actin, alpha skeletal muscle. The phenotype is highly variable, and as such attempts at classification by clinical features is not optimal. Generally, affected individuals have generalized muscle weakness, typically involving proximal muscles, the face, bulbar and respiratory muscles." @default.
- NCIT_C129870 NCIT_NHC0 "C129870" @default.
- NCIT_C129870 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C129870 NCIT_P108 "Nemaline Myopathy 3" @default.
- NCIT_C129870 NCIT_P207 "C1834336" @default.
- NCIT_C129870 NCIT_P322 "Cellosaurus" @default.
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- NCIT_C129870 NCIT_R135 NCIT_C25769 @default.
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- NCIT_C129870 NCIT_R176 NCIT_C16612 @default.
- NCIT_C129870 NCIT_R176 NCIT_C191893 @default.
- NCIT_C129870 NCIT_R176 NCIT_C20744 @default.
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- NCIT_C129870 NCIT_R176 NCIT_C20746 @default.
- NCIT_C129870 normalizedInformationContent "100" @default.
- NCIT_C129870 referenceCount "1" @default.
- NCIT_C129870 hasExactSynonym "NEM3" @default.
- NCIT_C129870 hasExactSynonym "Nemaline Myopathy 3" @default.
- NCIT_C129870 inSubset NCIT_C165258 @default.
- NCIT_C129870 inSubset NCIT_C192842 @default.
- NCIT_C129870 type Class @default.
- NCIT_C129870 isDefinedBy ncit.owl @default.
- NCIT_C129870 label "Nemaline Myopathy 3" @default.
- NCIT_C129870 subClassOf B276caa83a88aa7ae8d14d31ca2b3ebbf @default.
- NCIT_C129870 subClassOf B58af151ab4b6f9b4869c4bad14915d22 @default.
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- NCIT_C129870 subClassOf NCIT_C7057 @default.