has characteristic has characteristic has material basis in germline mutation in ITGB3 Autosomal recessive inheritance autosomal recessive disease Glanzmann thrombasthenia 2 https://github.com/monarch-initiative/mondo/issues/9994 https://www.malacards.org/card/glanzmann_thrombasthenia_2 A platelet type bleeding disorder characterized by lifelong mucocutaneous bleeding, severely impaired platelet aggregation, and absent or markedly reduced clot retraction due to loss of αIIbβ3‑mediated fibrinogen binding. Platelet number and morphology are typically normal, but responses to physiologic agonists, such as ADP, collagen, epinephrine, and thrombin are severely diminished or absent, while ristocetin‑induced agglutination is preserved. Biallelic loss‑of‑function ITGB3 variants result in reduced or absent β3 integrin production, preventing assembly or surface expression of the αIIbβ3 receptor complex and producing the characteristic Glanzmann thrombasthenia phenotype. Glanzmann thrombasthenia 2 bleeding disorder, platelet-type, 23 MEDGEN:1782592 GT2 OMIM:619267 MONDO:0031009 ITGB3-related Glanzmann thrombasthenia GARD:0016439 UMLS:C5543273 Glanzmann thrombasthenia