has material basis in germline mutation in ETV6 inherited bleeding disorder, platelet-type hereditary thrombocytopenia and hematologic cancer predisposition syndrome thrombocytopenia 5 https://github.com/monarch-initiative/mondo/issues/6928 https://github.com/monarch-initiative/mondo/issues/8567 https://github.com/monarch-initiative/mondo/issues/9994 https://www.malacards.org/card/thrombocytopenia_5 ETV6 thrombocytopenia NCIT:C203436 thrombocytopenia caused by mutation in ETV6 UMLS:C4015537 GARD:0025000 MONDO:0014536 OMIM:616216 THC5 Any thrombocytopenia in which the cause of the disease is a mutation in the ETV6 gene that impair transcriptional repression and megakaryocyte maturation. It is characterized by lifelong thrombocytopenia, mild mucocutaneous bleeding, and variable red cell macrocytosis. Affected individuals have a significantly increased susceptibility to hematologic malignancies, including B‑cell ALL, myelodysplastic syndrome, CMML, and mixed‑phenotype acute leukemia, with onset ranging from childhood to adulthood. Functional studies show that pathogenic ETV6 variants disrupt DNA binding, alter nuclear localization, and exert dominant‑negative effects on hematopoiesis, providing a mechanistic basis for both the platelet phenotype and cancer predisposition. ETV6-related thrombocytopenia with or without myeloid malignancy thrombocytopenia 5 MEDGEN:863974 inherited thrombocytopenia