has material basis in germline mutation in GP1BA Bernard-Soulier syndrome, type A2, autosomal dominant https://github.com/monarch-initiative/mondo/issues/4521 https://www.malacards.org/card/bernard_soulier_syndrome_type_a2_2 https://www.malacards.org/card/bernard_soulier_syndrome_type_a2_autosomal_dominant A Bernard-Soulier syndrome characterized by autosomal dominant inheritance of mild to moderate bleeding tendency, thrombocytopenia, and an increased mean platelet size that has material basis in heterozygous mutations in the GP1BA gene on chromosome 17p. Bernard-Soulier syndrome, type A2 (dominant) Bernard-Soulier syndrome, type A2, autosomal dominant Bernard-Soulier syndrome type A2 MONDO:0007930 DOID:0111059 MEDGEN:478706 BSSA2 UMLS:C3277076 GARD:0015082 OMIM:153670 Bernard-Soulier syndrome