Term Name: | Bernard-Soulier syndrome type A2 |
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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 ) |