Glanzmann's thrombasthenia (DOID:2219)
Alliance: disease page
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
Alt IDs: OMIM:273800, ICD10CM:D69.1, MESH:D013915, NCI:C61249, ORDO:849, UMLS_CUI:C0040015
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.