DISEASES

Disease-gene associations mined from literature

Human genes for Bernard-Soulier syndrome

Bernard-Soulier syndrome [DOID:2217]

Bernard–Soulier syndrome (BSS), also called hemorrhagiparous thrombocytic dystrophy, is a rare autosomal recessive coagulopathy (bleeding disorder) that causes a deficiency of glycoprotein Ib (GpIb), the receptor for von Willebrand factor, which is important in clot formation.

Synonyms:  Bernard-Soulier syndrome,  BernardSoulier syndrome,  Bernard-Soulier disease,  Bernard-Soulier disorder,  DOID:2217 ...

Linkouts:  OMIM #1 #2