has characteristic has characteristic has material basis in germline mutation in ITGB3 Autosomal dominant inheritance inherited bleeding disorder, platelet-type autosomal dominant disease bleeding disorder, platelet-type, 24 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/9994 https://www.malacards.org/card/bleeding_disorder_platelet_type_24 An inherited platelet-type bleeding disorder caused by heterozygous variants in the ITGB3 gene that alter integrin alpha-IIb/beta-3 inside-out and outside-in signaling, resulting in defective platelet production and function. Affected individuals present with congenital macrothrombocytopenia, comprising mild to moderate thrombocytopenia, giant platelets and platelet anisocytosis, together with variable mucocutaneous bleeding. Functional studies show reduced integrin alpha-IIb/beta-3 expression or impaired activation, decreased platelet aggregation in response to physiologic agonists, and impaired platelet spreading on fibrinogen. MONDO:0030996 Glanzmann Thrombasthenia-Like With Macrothrombocytopenia 2 bleeding disorder, platelet-type, 24, autosomal dominant bleeding disorder, platelet-type, 24 MEDGEN:1785711 GARD:0018273 BDPLT24 OMIM:619271 UMLS:C5543280 ITGB3-related thrombocytopenia