Summary Literature (0)

DOID:0060692 - platelet-type bleeding disorder 8

Disease Ontology Definition:An inherited blood coagulation disease characterized by mild to moderate mucocutaneous bleeding and absence of adenosine phosphate induced platelet aggregation that has_material_basis_in homozygous or compound heterozygous mutation in the P2RY12 gene on chromosome 3q.

Synonyms: ADP platelet receptor P2Y12 defect, P2Y12 defect,

Echinobase Genes :


OMIM:

MIM:609821 - bleeding disorder, platelet-type, 8; bdplt8

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee