has material basis in germline mutation in THPO thrombocytosis disease essential thrombocythemia thrombocythemia 1 https://github.com/monarch-initiative/mondo/issues/230 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/9994 https://www.malacards.org/card/thrombocythemia_1 THCYT1 GARD:0024630 UMLS:C3277671 MEDGEN:479301 Any familial thrombocytosis caused by a variation in the THPO gene, which encodes thrombopoietin, characterized by sustained thrombocythemia from excessive thrombopoietin signaling that ranges from asymptomatic thrombocytosis to thrombotic or hemorrhagic episodes, with rare progression to leukemic transformation. THPO-related thrombocythemia thrombocythemia 1 OMIM:187950 MONDO:0008554 familial thrombocytosis non-syndromic limb reduction defect