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- NCIT_C177546 IAO_0000115 "An autosomal recessive condition caused by mutation(s) in the RAPSN gene, encoding 43 kDa receptor-associated protein of the synapse. It is characterized by postsynaptic neuromuscular junction dysfunction resulting in muscle weakness of variable severity." @default.
- NCIT_C177546 NCIT_NHC0 "C177546" @default.
- NCIT_C177546 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C177546 NCIT_P108 "Myasthenic Syndrome, Congenital, 11, Associated with Acetylcholine Receptor Deficiency" @default.
- NCIT_C177546 NCIT_P207 "C4225367" @default.
- NCIT_C177546 NCIT_P322 "Cellosaurus" @default.
- NCIT_C177546 NCIT_R176 NCIT_C16612 @default.
- NCIT_C177546 NCIT_R176 NCIT_C177668 @default.
- NCIT_C177546 NCIT_R176 NCIT_C20744 @default.
- NCIT_C177546 normalizedInformationContent "100" @default.
- NCIT_C177546 referenceCount "1" @default.
- NCIT_C177546 hasExactSynonym "CMS11" @default.
- NCIT_C177546 hasExactSynonym "Myasthenic Syndrome, Congenital, 11, Associated with Acetylcholine Receptor Deficiency" @default.
- NCIT_C177546 inSubset NCIT_C165258 @default.
- NCIT_C177546 inSubset NCIT_C192842 @default.
- NCIT_C177546 type Class @default.
- NCIT_C177546 isDefinedBy ncit.owl @default.
- NCIT_C177546 label "Myasthenic Syndrome, Congenital, 11, Associated with Acetylcholine Receptor Deficiency" @default.
- NCIT_C177546 subClassOf B858bc1505e38b7a30ac467a9e05481fa @default.
- NCIT_C177546 subClassOf B85c648f454c2557a7d5ba73189844acd @default.
- NCIT_C177546 subClassOf NCIT_C177546 @default.
- NCIT_C177546 subClassOf NCIT_C28193 @default.
- NCIT_C177546 subClassOf NCIT_C2991 @default.
- NCIT_C177546 subClassOf NCIT_C4873 @default.
- NCIT_C177546 subClassOf NCIT_C53529 @default.
- NCIT_C177546 subClassOf NCIT_C53543 @default.
- NCIT_C177546 subClassOf NCIT_C53547 @default.
- NCIT_C177546 subClassOf NCIT_C7057 @default.
- NCIT_C177546 subClassOf NCIT_C84647 @default.