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- NCIT_C174216 IAO_0000115 "An autosomal recessive form of congenital myasthenic syndrome caused by mutation(s) in the CHRNE gene, encoding acetylcholine receptor subunit epsilon." @default.
- NCIT_C174216 NCIT_NHC0 "C174216" @default.
- NCIT_C174216 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C174216 NCIT_P108 "Congenital Myasthenic Syndrome-4C" @default.
- NCIT_C174216 NCIT_P207 "C1837091" @default.
- NCIT_C174216 NCIT_P322 "Cellosaurus" @default.
- NCIT_C174216 NCIT_R176 NCIT_C16612 @default.
- NCIT_C174216 NCIT_R176 NCIT_C198628 @default.
- NCIT_C174216 NCIT_R176 NCIT_C21295 @default.
- NCIT_C174216 NCIT_R176 NCIT_C25869 @default.
- NCIT_C174216 NCIT_R176 NCIT_C25993 @default.
- NCIT_C174216 NCIT_R176 NCIT_C26039 @default.
- NCIT_C174216 NCIT_R176 NCIT_C28533 @default.
- NCIT_C174216 normalizedInformationContent "100" @default.
- NCIT_C174216 referenceCount "1" @default.
- NCIT_C174216 hasExactSynonym "CMS4C" @default.
- NCIT_C174216 hasExactSynonym "Congenital Myasthenic Syndrome-4C" @default.
- NCIT_C174216 hasExactSynonym "Myasthenic Syndrome, Congenital, 4C, Associated with Acetylcholine Receptor Deficiency" @default.
- NCIT_C174216 inSubset NCIT_C165258 @default.
- NCIT_C174216 inSubset NCIT_C192842 @default.
- NCIT_C174216 type Class @default.
- NCIT_C174216 isDefinedBy ncit.owl @default.
- NCIT_C174216 label "Congenital Myasthenic Syndrome-4C" @default.
- NCIT_C174216 subClassOf Bcb45725093a89314f92b828fd6001ad8 @default.
- NCIT_C174216 subClassOf Be243aa4e9f382339b1b6a784058654fa @default.
- NCIT_C174216 subClassOf NCIT_C174216 @default.
- NCIT_C174216 subClassOf NCIT_C28193 @default.
- NCIT_C174216 subClassOf NCIT_C2991 @default.
- NCIT_C174216 subClassOf NCIT_C4873 @default.
- NCIT_C174216 subClassOf NCIT_C53529 @default.
- NCIT_C174216 subClassOf NCIT_C53543 @default.
- NCIT_C174216 subClassOf NCIT_C53547 @default.
- NCIT_C174216 subClassOf NCIT_C7057 @default.
- NCIT_C174216 subClassOf NCIT_C84647 @default.