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- NCIT_C178413 IAO_0000115 "An autosomal dominant condition caused by mutation(s) in the PRRT2 gene, encoding proline-rich transmembrane protein 2. It is characterized by dyskinesia triggered by sudden movement. It shares features with infantile convulsions and paroxysmal choreoathetosis, familial. It is an allelic disorder." @default.
- NCIT_C178413 NCIT_NHC0 "C178413" @default.
- NCIT_C178413 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C178413 NCIT_P108 "Episodic Kinesigenic Dyskinesia-1" @default.
- NCIT_C178413 NCIT_P207 "C1868682" @default.
- NCIT_C178413 NCIT_P322 "Cellosaurus" @default.
- NCIT_C178413 NCIT_R100 NCIT_C12219 @default.
- NCIT_C178413 NCIT_R100 NCIT_C12438 @default.
- NCIT_C178413 NCIT_R100 NCIT_C12755 @default.
- NCIT_C178413 NCIT_R100 NCIT_C12919 @default.
- NCIT_C178413 NCIT_R100 NCIT_C13040 @default.
- NCIT_C178413 NCIT_R100 NCIT_C32221 @default.
- NCIT_C178413 NCIT_R176 NCIT_C101620 @default.
- NCIT_C178413 NCIT_R176 NCIT_C16612 @default.
- NCIT_C178413 NCIT_R176 NCIT_C20194 @default.
- NCIT_C178413 normalizedInformationContent "100" @default.
- NCIT_C178413 referenceCount "1" @default.
- NCIT_C178413 hasExactSynonym "DYT10" @default.
- NCIT_C178413 hasExactSynonym "Dystonia 10" @default.
- NCIT_C178413 hasExactSynonym "EKD1" @default.
- NCIT_C178413 hasExactSynonym "Episodic Kinesigenic Dyskinesia-1" @default.
- NCIT_C178413 hasExactSynonym "PKD Dystonia" @default.
- NCIT_C178413 hasExactSynonym "Paroxysmal Kinesigenic Dyskinesia" @default.
- NCIT_C178413 inSubset NCIT_C165258 @default.
- NCIT_C178413 inSubset NCIT_C192842 @default.
- NCIT_C178413 type Class @default.
- NCIT_C178413 isDefinedBy ncit.owl @default.
- NCIT_C178413 label "Episodic Kinesigenic Dyskinesia-1" @default.
- NCIT_C178413 subClassOf B54c9045b0c4979b63358ab079d5fc362 @default.
- NCIT_C178413 subClassOf B7bb52739ccde30710780f70f52e78e49 @default.
- NCIT_C178413 subClassOf NCIT_C116757 @default.
- NCIT_C178413 subClassOf NCIT_C178413 @default.
- NCIT_C178413 subClassOf NCIT_C26835 @default.
- NCIT_C178413 subClassOf NCIT_C27551 @default.
- NCIT_C178413 subClassOf NCIT_C27586 @default.
- NCIT_C178413 subClassOf NCIT_C27588 @default.
- NCIT_C178413 subClassOf NCIT_C2934 @default.
- NCIT_C178413 subClassOf NCIT_C2991 @default.
- NCIT_C178413 subClassOf NCIT_C34563 @default.
- NCIT_C178413 subClassOf NCIT_C53529 @default.
- NCIT_C178413 subClassOf NCIT_C53531 @default.
- NCIT_C178413 subClassOf NCIT_C7057 @default.