Bernard-Soulier syndrome type A2

Term ID

DOID:0111059

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. (2)

References

• OMIM:153670

Ontology

Human Disease   ( DOID:0111059 )