has material basis in germline mutation in FLI1 inherited bleeding disorder, platelet-type bleeding disorder, platelet-type, 21 https://github.com/monarch-initiative/mondo/issues/9994 https://www.malacards.org/card/bleeding_disorder_platelet_type_21 An inherited platelet disorder caused by a variation in the FLI1 gene, an ETS-family transcription factor required for megakaryocyte maturation and formation of platelet alpha- and dense granules. Affected individuals typically exhibit mild to moderate thrombocytopenia, enlarged platelets, and characteristic defects in platelet granules, including absent or markedly reduced dense granules and enlarged or fused alpha-granules, leading to abnormal secretion and impaired aggregation responses. The clinical phenotype ranges from asymptomatic to significant mucocutaneous bleeding, menorrhagia, or perioperative bleeding. FLI1-related thrombocytopenia UMLS:C4479515 GARD:0016230 OMIM:617443 BDPLT21 MONDO:0054577 bleeding disorder, platelet-type, 21 MEDGEN:1386863 inherited thrombocytopenia