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DOID:2219 - Glanzmann's thrombasthenia
Disease Ontology 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.
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
Echinobase Genes
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| MIM:273800 - glanzmann thrombasthenia; gt |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
blood platelet disease (is_a)