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- NCIT_C84559 IAO_0000115 "A subtype of long QT syndrome caused by mutation(s) in the KCNJ2 gene, encoding inward rectifier potassium channel 2. It is characterized by ventricular arrhythmia, muscle weakness, and developmental abnormalities which include micrognathia, low-set ears and deformities of the fingers." @default.
- NCIT_C84559 NCIT_NHC0 "C84559" @default.
- NCIT_C84559 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C84559 NCIT_P108 "Long QT Syndrome 7" @default.
- NCIT_C84559 NCIT_P207 "C1563715" @default.
- NCIT_C84559 NCIT_P322 "Cellosaurus" @default.
- NCIT_C84559 NCIT_R100 NCIT_C12219 @default.
- NCIT_C84559 NCIT_R100 NCIT_C12686 @default.
- NCIT_C84559 NCIT_R100 NCIT_C12727 @default.
- NCIT_C84559 NCIT_R100 NCIT_C12779 @default.
- NCIT_C84559 NCIT_R100 NCIT_C12905 @default.
- NCIT_C84559 NCIT_R100 NCIT_C12919 @default.
- NCIT_C84559 NCIT_R100 NCIT_C13018 @default.
- NCIT_C84559 NCIT_R100 NCIT_C25444 @default.
- NCIT_C84559 normalizedInformationContent "100" @default.
- NCIT_C84559 referenceCount "1" @default.
- NCIT_C84559 hasExactSynonym "ATS" @default.
- NCIT_C84559 hasExactSynonym "Andersen Syndrome" @default.
- NCIT_C84559 hasExactSynonym "Andersen-Tawil syndrome" @default.
- NCIT_C84559 hasExactSynonym "LQT7" @default.
- NCIT_C84559 hasExactSynonym "Long QT Syndrome 7" @default.
- NCIT_C84559 inSubset NCIT_C165258 @default.
- NCIT_C84559 inSubset NCIT_C192842 @default.
- NCIT_C84559 type Class @default.
- NCIT_C84559 isDefinedBy ncit.owl @default.
- NCIT_C84559 label "Long QT Syndrome 7" @default.
- NCIT_C84559 subClassOf NCIT_C27551 @default.
- NCIT_C84559 subClassOf NCIT_C27669 @default.
- NCIT_C84559 subClassOf NCIT_C27672 @default.
- NCIT_C84559 subClassOf NCIT_C28193 @default.
- NCIT_C84559 subClassOf NCIT_C2931 @default.
- NCIT_C84559 subClassOf NCIT_C2991 @default.
- NCIT_C84559 subClassOf NCIT_C3079 @default.
- NCIT_C84559 subClassOf NCIT_C34786 @default.
- NCIT_C84559 subClassOf NCIT_C35741 @default.
- NCIT_C84559 subClassOf NCIT_C35742 @default.
- NCIT_C84559 subClassOf NCIT_C35743 @default.
- NCIT_C84559 subClassOf NCIT_C4873 @default.
- NCIT_C84559 subClassOf NCIT_C53529 @default.
- NCIT_C84559 subClassOf NCIT_C53531 @default.
- NCIT_C84559 subClassOf NCIT_C53543 @default.
- NCIT_C84559 subClassOf NCIT_C53547 @default.
- NCIT_C84559 subClassOf NCIT_C7057 @default.
- NCIT_C84559 subClassOf NCIT_C84559 @default.