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- NCIT_C131830 IAO_0000115 "KATP-associated hyperinsulinism in which there is an area of adenomatous beta-cell hyperplasia. This condition results from paternal recessive mutation(s) in either the ABCC8 or the KCNJ11 gene and paternal uniparental isodisomy of chromosome region 11p15 with loss of tumor suppressor genes expressed from the maternally inherited chromosome." @default.
- NCIT_C131830 NCIT_A13 NCIT_C191883 @default.
- NCIT_C131830 NCIT_NHC0 "C131830" @default.
- NCIT_C131830 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C131830 NCIT_P108 "Focal KATP-Associated Hyperinsulinism" @default.
- NCIT_C131830 NCIT_P208 "CL514286" @default.
- NCIT_C131830 NCIT_P322 "NICHD" @default.
- NCIT_C131830 NCIT_P325 "KATP-associated hyperinsulinism in which there is an area of adenomatous beta-cell hyperplasia. This condition results from paternal recessive mutation(s) in either the ABCC8 or the KCNJ11 gene and paternal uniparental isodisomy of chromosome region 11p15 with loss of tumor suppressor genes expressed from the maternally inherited chromosome." @default.
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- NCIT_C131830 NCIT_R103 NCIT_C45714 @default.
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- NCIT_C131830 NCIT_R104 NCIT_C12578 @default.
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- NCIT_C131830 NCIT_R104 NCIT_C32506 @default.
- NCIT_C131830 NCIT_R104 NCIT_C32885 @default.
- NCIT_C131830 normalizedInformationContent "100" @default.
- NCIT_C131830 referenceCount "1" @default.
- NCIT_C131830 hasExactSynonym "Focal KATP-Associated Hyperinsulinism" @default.
- NCIT_C131830 inSubset NCIT_C118467 @default.
- NCIT_C131830 inSubset NCIT_C90259 @default.
- NCIT_C131830 type Class @default.
- NCIT_C131830 isDefinedBy ncit.owl @default.
- NCIT_C131830 label "Focal KATP-Associated Hyperinsulinism" @default.
- NCIT_C131830 subClassOf NCIT_C131830 @default.
- NCIT_C131830 subClassOf NCIT_C131842 @default.
- NCIT_C131830 subClassOf NCIT_C171128 @default.
- NCIT_C131830 subClassOf NCIT_C26842 @default.
- NCIT_C131830 subClassOf NCIT_C27067 @default.
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- NCIT_C131830 subClassOf NCIT_C53505 @default.
- NCIT_C131830 subClassOf NCIT_C53529 @default.
- NCIT_C131830 subClassOf NCIT_C53531 @default.
- NCIT_C131830 subClassOf NCIT_C7057 @default.