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- NCIT_C177545 IAO_0000115 "An autosomal dominant condition caused by mutation(s) in the GRIN2D gene, encoding glutamate receptor ionotropic, NMDA 2D. It is characterized by developmental delay and intractable seizures." @default.
- NCIT_C177545 NCIT_NHC0 "C177545" @default.
- NCIT_C177545 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C177545 NCIT_P108 "Developmental and Epileptic Encephalopathy 46" @default.
- NCIT_C177545 NCIT_P208 "CL602133" @default.
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- NCIT_C177545 normalizedInformationContent "100" @default.
- NCIT_C177545 referenceCount "1" @default.
- NCIT_C177545 hasExactSynonym "DEE46" @default.
- NCIT_C177545 hasExactSynonym "Developmental and Epileptic Encephalopathy 46" @default.
- NCIT_C177545 hasExactSynonym "EIEE46" @default.
- NCIT_C177545 hasExactSynonym "Early Infantile Epileptic Encephalopathy 46" @default.
- NCIT_C177545 inSubset NCIT_C165258 @default.
- NCIT_C177545 inSubset NCIT_C192842 @default.
- NCIT_C177545 type Class @default.
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- NCIT_C177545 label "Developmental and Epileptic Encephalopathy 46" @default.
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- NCIT_C177545 subClassOf NCIT_C97154 @default.