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Matches in Ubergraph for { <http://purl.obolibrary.org/obo/NCIT_C151903> ?p ?o ?g. }

• NCIT_C151903 IAO_0000115 "An autosomal dominant syndrome characterized by abnormalities in platelet number and function and enhanced risk of developing myelodysplastic syndrome/acute myeloid leukemia at a young age. Patients have germline monoallelic mutations in RUNX1 gene. The clinical presentation is variable, even within the same family. Most affected individuals have a mild to moderate bleeding tendency. Platelet counts are normal or mildly reduced, with normal platelet morphology and variable degrees of platelet dysfunction. Distinct families with germline RUNX1 mutations exhibit varying risks of development of myeloid neoplasms with 11-100% (median: 44%) of family members affected. (WHO 2017)" @default.
• NCIT_C151903 NCIT_NHC0 "C151903" @default.
• NCIT_C151903 NCIT_P106 "Neoplastic Process" @default.
• NCIT_C151903 NCIT_P108 "Hematologic Neoplasm with Germline RUNX1 Mutation" @default.
• NCIT_C151903 NCIT_P208 "CL553246" @default.
• NCIT_C151903 NCIT_P363 "Malignant" @default.
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• NCIT_C151903 normalizedInformationContent "92.730304365937428" @default.
• NCIT_C151903 referenceCount "3" @default.
• NCIT_C151903 hasExactSynonym "Hematologic Neoplasm with Germline RUNX1 Mutation" @default.
• NCIT_C151903 type Class @default.
• NCIT_C151903 isDefinedBy ncit.owl @default.
• NCIT_C151903 label "Hematologic Neoplasm with Germline RUNX1 Mutation" @default.
• NCIT_C151903 subClassOf NCIT_C130038 @default.
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• NCIT_C151903 subClassOf NCIT_C3262 @default.
• NCIT_C151903 subClassOf NCIT_C3263 @default.
• NCIT_C151903 subClassOf NCIT_C35813 @default.

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