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Disease Ontology Browser
Bernard-Soulier syndrome type A2 (DOID:0111059)
Alliance: disease page
Synonyms: BSSA2
Alt IDs: OMIM:153670
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.

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.12
The Jackson Laboratory