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hereditary thrombocytopenia and hematologic cancer predisposition syndrome

Disease Summary
Associated Targets (3)
Tbio

3


GARD Rare
Mondo Description The disorder is characterized by thrombocytopenia of varying severity and a predisposition to hematologic malignancies. It may be caused due to germ line variations in the RUNX1, ETV6 or ANKRD26 genes.
Mondo Term and Equivalent IDs
MONDO:0011071:  hereditary thrombocytopenia and hematologic cancer predisposition syndrome
GARD:0010352: 
MESH:C563324: 
Orphanet:71290: 
SCTID:725034002: 
UMLS:C1832388: