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- NCIT_C129304 IAO_0000115 "Congenital myasthenic syndrome caused by mutation(s) in the COLQ gene, encoding acetylcholinesterase collagenic tail peptide. It is inherited in an autosomal recessive manner." @default.
- NCIT_C129304 NCIT_NHC0 "C129304" @default.
- NCIT_C129304 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C129304 NCIT_P108 "Congenital Myasthenic Syndrome 5" @default.
- NCIT_C129304 NCIT_P207 "C1864233" @default.
- NCIT_C129304 NCIT_P322 "Cellosaurus" @default.
- NCIT_C129304 NCIT_R176 NCIT_C16612 @default.
- NCIT_C129304 NCIT_R176 NCIT_C200235 @default.
- NCIT_C129304 NCIT_R176 NCIT_C20744 @default.
- NCIT_C129304 normalizedInformationContent "100" @default.
- NCIT_C129304 referenceCount "1" @default.
- NCIT_C129304 hasExactSynonym "CMS5" @default.
- NCIT_C129304 hasExactSynonym "Congenital Myasthenic Syndrome 5" @default.
- NCIT_C129304 hasExactSynonym "EAD" @default.
- NCIT_C129304 hasExactSynonym "Endplate Acetylcholinesterase Deficiency" @default.
- NCIT_C129304 inSubset NCIT_C165258 @default.
- NCIT_C129304 inSubset NCIT_C192842 @default.
- NCIT_C129304 type Class @default.
- NCIT_C129304 isDefinedBy ncit.owl @default.
- NCIT_C129304 label "Congenital Myasthenic Syndrome 5" @default.
- NCIT_C129304 subClassOf B5c8f612d54b3b40743b9ae0a4715b8f7 @default.
- NCIT_C129304 subClassOf Bcf08760dfbfcd7f0e42fca0dae4e16c8 @default.
- NCIT_C129304 subClassOf NCIT_C129304 @default.
- NCIT_C129304 subClassOf NCIT_C28193 @default.
- NCIT_C129304 subClassOf NCIT_C2991 @default.
- NCIT_C129304 subClassOf NCIT_C4873 @default.
- NCIT_C129304 subClassOf NCIT_C53529 @default.
- NCIT_C129304 subClassOf NCIT_C53543 @default.
- NCIT_C129304 subClassOf NCIT_C53547 @default.
- NCIT_C129304 subClassOf NCIT_C7057 @default.
- NCIT_C129304 subClassOf NCIT_C84647 @default.