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- NCIT_C151901 IAO_0000115 "An autosomal dominant familial myelodysplastic syndrome/acute myeloid leukemia syndrome characterized by inherited mutations in the gene on chromosome 5 encoding the DEAD box RNA helicase DDX41. Patients usually present with leukopenia, hypocellular bone marrow with prominent erythroid dysplasia and a normal karyotype, often leading to erythroleukemia. The prognosis is generally poor. (WHO 2017)" @default.
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- NCIT_C151901 NCIT_NHC0 "C151901" @default.
- NCIT_C151901 NCIT_P106 "Neoplastic Process" @default.
- NCIT_C151901 NCIT_P108 "Hematologic Neoplasm with Germline DDX41 Mutation" @default.
- NCIT_C151901 NCIT_P208 "CL553244" @default.
- NCIT_C151901 NCIT_P363 "Malignant" @default.
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- NCIT_C151901 normalizedInformationContent "92.730304365937428" @default.
- NCIT_C151901 referenceCount "3" @default.
- NCIT_C151901 hasExactSynonym "Hematologic Neoplasm with Germline DDX41 Mutation" @default.
- NCIT_C151901 type Class @default.
- NCIT_C151901 isDefinedBy ncit.owl @default.
- NCIT_C151901 label "Hematologic Neoplasm with Germline DDX41 Mutation" @default.
- NCIT_C151901 subClassOf NCIT_C130038 @default.
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