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- B48853c19afa028b167ebda24891fa177 NCIT_P378 "NCI" @default.
- B48853c19afa028b167ebda24891fa177 type Axiom @default.
- B48853c19afa028b167ebda24891fa177 annotatedProperty IAO_0000115 @default.
- B48853c19afa028b167ebda24891fa177 annotatedSource NCIT_C200422 @default.
- B48853c19afa028b167ebda24891fa177 annotatedTarget "An autosomal dominant inherited syndrome caused by germline mutations of the SAMD9L gene. It is characterized by cerebellar ataxia, cytopenia in all cell lineages, and predisposition to myelodysplasia and myeloid leukemia." @default.