| 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 ) |