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- NCIT_C129871 IAO_0000115 "An autosomal recessive myopathy caused by mutations in the KLHL40 gene, encoding Kelch-like protein 40. The phenotype is highly variable, and as such attempts at classification by clinical features is not optimal. Generally, affected individuals have generalized muscle weakness, and typically involves proximal muscles, the face, bulbar and respiratory muscles." @default.
- NCIT_C129871 NCIT_NHC0 "C129871" @default.
- NCIT_C129871 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C129871 NCIT_P108 "Nemaline Myopathy 8" @default.
- NCIT_C129871 NCIT_P207 "C3809209" @default.
- NCIT_C129871 NCIT_P322 "Cellosaurus" @default.
- NCIT_C129871 NCIT_R100 NCIT_C12219 @default.
- NCIT_C129871 NCIT_R100 NCIT_C12754 @default.
- NCIT_C129871 NCIT_R100 NCIT_C12801 @default.
- NCIT_C129871 NCIT_R100 NCIT_C12919 @default.
- NCIT_C129871 NCIT_R100 NCIT_C12964 @default.
- NCIT_C129871 NCIT_R103 NCIT_C12219 @default.
- NCIT_C129871 NCIT_R103 NCIT_C12471 @default.
- NCIT_C129871 NCIT_R103 NCIT_C12801 @default.
- NCIT_C129871 NCIT_R103 NCIT_C12964 @default.
- NCIT_C129871 NCIT_R135 NCIT_C12219 @default.
- NCIT_C129871 NCIT_R135 NCIT_C12366 @default.
- NCIT_C129871 NCIT_R135 NCIT_C25769 @default.
- NCIT_C129871 NCIT_R135 NCIT_C32221 @default.
- NCIT_C129871 NCIT_R135 NCIT_C34076 @default.
- NCIT_C129871 normalizedInformationContent "100" @default.
- NCIT_C129871 referenceCount "1" @default.
- NCIT_C129871 hasExactSynonym "NEM8" @default.
- NCIT_C129871 hasExactSynonym "Nemaline Myopathy 8" @default.
- NCIT_C129871 inSubset NCIT_C165258 @default.
- NCIT_C129871 inSubset NCIT_C192842 @default.
- NCIT_C129871 type Class @default.
- NCIT_C129871 isDefinedBy ncit.owl @default.
- NCIT_C129871 label "Nemaline Myopathy 8" @default.
- NCIT_C129871 subClassOf NCIT_C101216 @default.
- NCIT_C129871 subClassOf NCIT_C107377 @default.
- NCIT_C129871 subClassOf NCIT_C118317 @default.
- NCIT_C129871 subClassOf NCIT_C129871 @default.
- NCIT_C129871 subClassOf NCIT_C166355 @default.
- NCIT_C129871 subClassOf NCIT_C26326 @default.
- NCIT_C129871 subClassOf NCIT_C27042 @default.
- NCIT_C129871 subClassOf NCIT_C27551 @default.
- NCIT_C129871 subClassOf NCIT_C27573 @default.
- NCIT_C129871 subClassOf NCIT_C27574 @default.
- NCIT_C129871 subClassOf NCIT_C2991 @default.
- NCIT_C129871 subClassOf NCIT_C53529 @default.
- NCIT_C129871 subClassOf NCIT_C53531 @default.
- NCIT_C129871 subClassOf NCIT_C7057 @default.