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- NCIT_C129864 IAO_0000115 "An autosomal recessive form of demyelinating Charcot-Marie-Tooth disease caused by mutations in the SH3TC2 gene, encoding SH3 domain and tetratricopeptide repeat-containing protein 2." @default.
- NCIT_C129864 NCIT_NHC0 "C129864" @default.
- NCIT_C129864 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C129864 NCIT_P108 "Charcot-Marie-Tooth Disease Type 4C" @default.
- NCIT_C129864 NCIT_P207 "C1866636" @default.
- NCIT_C129864 NCIT_P322 "Cellosaurus" @default.
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- NCIT_C129864 normalizedInformationContent "100" @default.
- NCIT_C129864 referenceCount "1" @default.
- NCIT_C129864 hasExactSynonym "CMT4C" @default.
- NCIT_C129864 hasExactSynonym "Charcot-Marie-Tooth Disease Type 4C" @default.
- NCIT_C129864 inSubset NCIT_C165258 @default.
- NCIT_C129864 inSubset NCIT_C192842 @default.
- NCIT_C129864 type Class @default.
- NCIT_C129864 isDefinedBy ncit.owl @default.
- NCIT_C129864 label "Charcot-Marie-Tooth Disease Type 4C" @default.
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