Visualize Submit Comment

Metadata
ID	DOID:0111059
Name	Bernard-Soulier syndrome type A2
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. https://www.ncbi.nlm.nih.gov/pubmed/11222377, https://www.ncbi.nlm.nih.gov/pubmed/1730088
Xrefs	MIM:153670
Synonyms	BSSA2 [EXACT]
Parent Relationships	is_a Bernard-Soulier syndrome
Subclass Logical Relationships	has symptom some bleeding