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- NCIT_C162398 IAO_0000115 "An autosomal recessive condition caused by mutation(s) in the G6PC gene, encoding glucose-6-phosphatase. It is characterized by accumulation of glycogen in the kidneys and liver resulting in hypoglycemia, hyperlipidemia, and hyperuricemia. Adults may have a high incidence of hepatic adenomas." @default.
- NCIT_C162398 NCIT_NHC0 "C162398" @default.
- NCIT_C162398 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C162398 NCIT_P108 "Glycogen Storage Disease Type Ia" @default.
- NCIT_C162398 NCIT_P207 "C2919796" @default.
- NCIT_C162398 NCIT_P322 "Cellosaurus" @default.
- NCIT_C162398 NCIT_R176 NCIT_C16612 @default.
- NCIT_C162398 NCIT_R176 NCIT_C176506 @default.
- NCIT_C162398 NCIT_R176 NCIT_C21281 @default.
- NCIT_C162398 NCIT_R176 NCIT_C25804 @default.
- NCIT_C162398 NCIT_R176 NCIT_C25952 @default.
- NCIT_C162398 NCIT_R176 NCIT_C26070 @default.
- NCIT_C162398 normalizedInformationContent "100" @default.
- NCIT_C162398 referenceCount "1" @default.
- NCIT_C162398 hasExactSynonym "GSD1A" @default.
- NCIT_C162398 hasExactSynonym "Glucose-6 Phosphatase Deficiency" @default.
- NCIT_C162398 hasExactSynonym "Glycogen Storage Disease Type Ia" @default.
- NCIT_C162398 hasExactSynonym "Hepatorenal Glycogenosis" @default.
- NCIT_C162398 hasExactSynonym "Von Gierke Disease" @default.
- NCIT_C162398 inSubset NCIT_C165258 @default.
- NCIT_C162398 inSubset NCIT_C192842 @default.
- NCIT_C162398 type Class @default.
- NCIT_C162398 isDefinedBy ncit.owl @default.
- NCIT_C162398 label "Glycogen Storage Disease Type Ia" @default.
- NCIT_C162398 subClassOf B3b694bdb0eb24d96aeaa2f5ab5f79f9b @default.
- NCIT_C162398 subClassOf B3b93519ca5deceabc8d6afe9f2a3e6ca @default.
- NCIT_C162398 subClassOf NCIT_C162398 @default.
- NCIT_C162398 subClassOf NCIT_C2991 @default.
- NCIT_C162398 subClassOf NCIT_C3235 @default.
- NCIT_C162398 subClassOf NCIT_C34816 @default.
- NCIT_C162398 subClassOf NCIT_C4873 @default.
- NCIT_C162398 subClassOf NCIT_C53529 @default.
- NCIT_C162398 subClassOf NCIT_C53543 @default.
- NCIT_C162398 subClassOf NCIT_C53547 @default.
- NCIT_C162398 subClassOf NCIT_C61272 @default.
- NCIT_C162398 subClassOf NCIT_C7057 @default.
- NCIT_C162398 subClassOf NCIT_C84733 @default.