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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,
Xenbase Genes :
MONDO:0007930 - Bernard-Soulier syndrome, type A2, autosomal dominant |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
Bernard-Soulier syndrome (is_a)