hereditary thrombocytopenia with normal platelets-hematological cancer predisposition syndrome
Familial platelet disorder with predisposition to acute myelogenous leukemia (FPD/AML) is characterised by moderate thrombocytopenia, abnormal platelet function and the propensity to develop myeloid malignancies, in particular AML
isolated constitutional thrombocytopenia
hereditary thrombocytopenia with normal platelets
Monarch Disease Ontology release 2018-06-29
Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia
Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy