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Familial platelet disorder with associated myeloid malignancy

ORPHA:71290· ICD-10 D69.1

Definition

A rare, genetic, constitutional thrombocytopenia disease characterized by mild to moderate thrombocytopenia, abnormal platelet function and a propensity to develop hematological malignancies, mainly of myeloid origin.

Prevalence
<1 / 1 000 000
Inheritance
Autosomal dominant