Term Name: Bernard-Soulier syndrome type A2
Synonyms: BSSA2
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.
Ontology: Human Disease [DOID:0111059]   ( DOID:0111059 )

Relationships
is a type of: Bernard-Soulier syndrome