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- NCIT_C131832 IAO_0000115 "Hyperinsulinism due to activating mutation(s) in the GLUD1 gene, encoding glutamate dehydrogenase 1. This condition is characterized by protein induced hypoglycemia and hyperammonemia, which is presumed to be due to increased ammonia production in the kidney." @default.
- NCIT_C131832 NCIT_NHC0 "C131832" @default.
- NCIT_C131832 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C131832 NCIT_P108 "Glutamate Dehydrogenase 1 Hyperinsulinism" @default.
- NCIT_C131832 NCIT_P207 "C1847555" @default.
- NCIT_C131832 NCIT_P322 "NICHD" @default.
- NCIT_C131832 NCIT_P325 "Hyperinsulinism due to activating mutation(s) in the GLUD1 gene, encoding glutamate dehydrogenase 1. This condition is characterized by protein induced hypoglycemia and hyperammonemia, which is presumed to be due to increased ammonia production in the kidney." @default.
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- NCIT_C131832 NCIT_R104 NCIT_C12508 @default.
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- NCIT_C131832 NCIT_R104 NCIT_C32506 @default.
- NCIT_C131832 NCIT_R104 NCIT_C32885 @default.
- NCIT_C131832 normalizedInformationContent "100" @default.
- NCIT_C131832 referenceCount "1" @default.
- NCIT_C131832 hasExactSynonym "GDH Hyperinsulinism" @default.
- NCIT_C131832 hasExactSynonym "GLUD1 Hyperinsulinism" @default.
- NCIT_C131832 hasExactSynonym "Glutamate Dehydrogenase 1 Hyperinsulinism" @default.
- NCIT_C131832 hasExactSynonym "Hyperinsulinism/Hyperammonemia Syndrome" @default.
- NCIT_C131832 inSubset NCIT_C118467 @default.
- NCIT_C131832 inSubset NCIT_C90259 @default.
- NCIT_C131832 type Class @default.
- NCIT_C131832 isDefinedBy ncit.owl @default.
- NCIT_C131832 label "Glutamate Dehydrogenase 1 Hyperinsulinism" @default.
- NCIT_C131832 subClassOf NCIT_C131832 @default.
- NCIT_C131832 subClassOf NCIT_C131840 @default.
- NCIT_C131832 subClassOf NCIT_C171128 @default.
- NCIT_C131832 subClassOf NCIT_C26842 @default.
- NCIT_C131832 subClassOf NCIT_C27067 @default.
- NCIT_C131832 subClassOf NCIT_C27550 @default.
- NCIT_C131832 subClassOf NCIT_C27551 @default.
- NCIT_C131832 subClassOf NCIT_C2990 @default.
- NCIT_C131832 subClassOf NCIT_C2991 @default.
- NCIT_C131832 subClassOf NCIT_C3009 @default.
- NCIT_C131832 subClassOf NCIT_C53505 @default.
- NCIT_C131832 subClassOf NCIT_C53529 @default.
- NCIT_C131832 subClassOf NCIT_C53531 @default.
- NCIT_C131832 subClassOf NCIT_C7057 @default.