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- NCIT_C131837 IAO_0000115 "Hyperinsulinism due to inactivating mutation(s) in the gene HADH, encoding mitochondrial (short-chain) hydroxyacyl-coenzyme A dehydrogenase, resulting in loss of inhibition of glutamate dehydrogenase (GDH). This condition is also characterized by protein-induced hypoglycemia, but in contrast to GLUD1-associated hyperinsulinism, hyperammonemia is absent." @default.
- NCIT_C131837 NCIT_NHC0 "C131837" @default.
- NCIT_C131837 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C131837 NCIT_P108 "Mitochondrial Hydroxyacyl-Coenzyme A Dehydrogenase Hyperinsulinism" @default.
- NCIT_C131837 NCIT_P208 "CL514669" @default.
- NCIT_C131837 NCIT_P322 "NICHD" @default.
- NCIT_C131837 NCIT_P325 "Hyperinsulinism due to inactivating mutation(s) in the gene HADH, encoding mitochondrial (short-chain) hydroxyacyl-coenzyme A dehydrogenase, resulting in loss of inhibition of glutamate dehydrogenase (GDH). This condition is also characterized by protein-induced hypoglycemia, but in contrast to GLUD1-associated hyperinsulinism, hyperammonemia is absent." @default.
- NCIT_C131837 NCIT_R100 NCIT_C12219 @default.
- NCIT_C131837 NCIT_R100 NCIT_C12378 @default.
- NCIT_C131837 NCIT_R100 NCIT_C12393 @default.
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- NCIT_C131837 NCIT_R100 NCIT_C13018 @default.
- NCIT_C131837 NCIT_R101 NCIT_C12219 @default.
- NCIT_C131837 NCIT_R101 NCIT_C12378 @default.
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- NCIT_C131837 NCIT_R101 NCIT_C12919 @default.
- NCIT_C131837 NCIT_R101 NCIT_C45714 @default.
- NCIT_C131837 NCIT_R103 NCIT_C12219 @default.
- NCIT_C131837 NCIT_R103 NCIT_C12608 @default.
- NCIT_C131837 NCIT_R103 NCIT_C12801 @default.
- NCIT_C131837 NCIT_R103 NCIT_C45714 @default.
- NCIT_C131837 NCIT_R104 NCIT_C12219 @default.
- NCIT_C131837 NCIT_R104 NCIT_C12485 @default.
- NCIT_C131837 NCIT_R104 NCIT_C12508 @default.
- NCIT_C131837 NCIT_R104 NCIT_C12573 @default.
- NCIT_C131837 NCIT_R104 NCIT_C12578 @default.
- NCIT_C131837 NCIT_R104 NCIT_C13055 @default.
- NCIT_C131837 NCIT_R104 NCIT_C21599 @default.
- NCIT_C131837 NCIT_R104 NCIT_C32506 @default.
- NCIT_C131837 NCIT_R104 NCIT_C32885 @default.
- NCIT_C131837 normalizedInformationContent "100" @default.
- NCIT_C131837 referenceCount "1" @default.
- NCIT_C131837 hasExactSynonym "HADH-Associated Hyperinsulinism" @default.
- NCIT_C131837 hasExactSynonym "Mitochondrial Hydroxyacyl-Coenzyme A Dehydrogenase Hyperinsulinism" @default.
- NCIT_C131837 hasExactSynonym "SCHAD Hyperinsulinism" @default.
- NCIT_C131837 inSubset NCIT_C118467 @default.
- NCIT_C131837 inSubset NCIT_C90259 @default.
- NCIT_C131837 type Class @default.
- NCIT_C131837 isDefinedBy ncit.owl @default.
- NCIT_C131837 label "Mitochondrial Hydroxyacyl-Coenzyme A Dehydrogenase Hyperinsulinism" @default.
- NCIT_C131837 subClassOf NCIT_C131837 @default.
- NCIT_C131837 subClassOf NCIT_C131840 @default.
- NCIT_C131837 subClassOf NCIT_C171128 @default.
- NCIT_C131837 subClassOf NCIT_C26842 @default.
- NCIT_C131837 subClassOf NCIT_C27067 @default.
- NCIT_C131837 subClassOf NCIT_C27550 @default.
- NCIT_C131837 subClassOf NCIT_C27551 @default.
- NCIT_C131837 subClassOf NCIT_C2990 @default.
- NCIT_C131837 subClassOf NCIT_C2991 @default.
- NCIT_C131837 subClassOf NCIT_C3009 @default.
- NCIT_C131837 subClassOf NCIT_C53505 @default.
- NCIT_C131837 subClassOf NCIT_C53529 @default.
- NCIT_C131837 subClassOf NCIT_C53531 @default.
- NCIT_C131837 subClassOf NCIT_C7057 @default.