Mondo Description Any thrombocytopenia in which the cause of the disease is a mutation in the ETV6 gene.

Uniprot Description Thrombocytopenia is defined by a decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting. THC5 is an autosomal dominant disorder, associated with an increased susceptibility to the development of hematologic and solid malignancies.