Bernard-Soulier syndrome, type A2, autosomal dominant

Definition

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.

Also known as Bernard-Soulier syndrome, type A2 (dominant), Bernard-Soulier syndrome, type A2, autosomal dominant, BSSA2 — per MONDO

Also identified as

• DOID 0111059 per MONDO
• OMIM 153670 per MONDO
• UMLS C3277076 per MONDO