Term Name: | Glanzmann's thrombasthenia |
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Synonyms: | BDPLT2, deficiency of glycoprotein complex IIb-IIIa, deficiency of GP IIb-IIIa complex, deficiency of platelet fibrinogen receptor, Glanzmann thrombasthenia, Glycoprotein IIb/IIIa defect, platelet glycoprotein IIb-IIIa deficiency, platelet-type bleeding disorder 2, thrombasthenia of Glanzmann and Naegeli, Thrombocytasthenia |
Definition: | A 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. |
Ontology: | Human Disease [DOID:2219] ( DOID:2219 ) |