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.
MONDO:0009276
Bernard-Soulier syndrome
is_a
BSSA2
exact
Bernard-Soulier syndrome, type A2 (dominant)
exact
Bernard-Soulier syndrome, type A2, autosomal dominant
exact