Glanzmann's thrombasthenia

Term ID

DOID:2219

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. (3)

References

• GARD:2478
• ICD10CM:D69.1
• MESH:D013915
• MIM:273800
• NCI:C61249
• ORDO:849
• SNOMEDCT_US_2023_03_01:32942005
• UMLS_CUI:C0040015

Ontology

Human Disease   ( DOID:2219 )