DOID:2219 - Glanzmann's thrombasthenia
Disease Ontology Definition:An inherited blood coagulation disease characterized by autosomal recessive inheritance of failure of platelet aggregation and absent or diminished clot retraction that has material_basis_in mutation in the ITGA2B or ITGB3 genes on chromosome 17q21.32.
Synonyms: BDPLT2, Glanzmann thrombasthenia, Glycoprotein IIb/IIIa defect, Thrombocytasthenia, deficiency of GP IIb-IIIa complex, deficiency of glycoprotein complex IIb-IIIa, deficiency of platelet fibrinogen receptor, platelet glycoprotein IIb-IIIa deficiency, platelet-type bleeding disorder 2, thrombasthenia of Glanzmann and Naegeli
Echinobase Genes :
|OMIM:273800 - glanzmann thrombasthenia; gt|
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee