About   Help   FAQ
Disease Ontology Browser
Bernard-Soulier syndrome type A2 (DOID:0111059)
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.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
05/16/2017
MGI 6.09
The Jackson Laboratory