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Echinobase
Summary Literature (0)
DOID:0111059 - Bernard-Soulier syndrome type A2

Disease Ontology 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.

Synonyms: BSSA2

Echinobase Genes :



Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): Bernard-Soulier syndrome (is_a)