Bernard-Soulier syndrome
Bernard Soulier syndrome (BSS) is an inherited platelet disorder characterized by mild to severe bleeding tendency, macrothrombocytopenia and absent ristocetin-induced platelet agglutination.
MONDO:0000009
inherited bleeding disorder, platelet-type
is_a
MONDO:0002254
syndromic disease
is_a
BSS
related
Bernard-Soulier syndrome
exact
Bernard-Soulier syndrome, type A1 (recessive)
exact
Hemorrhagiparous thrombocytic dystrophy
exact
Platelet glycoprotein 1b, deficiency of
related
deficiency of platelet glycoprotein 1b
related
giant platelet disease
related
giant platelet disorder, isolated
exact
giant platelet syndrome
exact
macrothrombocytopenia, familial Bernard-Soulier type
related