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Glanzmann thrombasthenia

Disease Summary
Associated Targets (2)
Tclin

2


Uniprot Description A common inherited disease of platelet aggregation. It is characterized by mucocutaneous bleeding of mild-to-moderate severity. GT has been classified clinically into types I and II. In type I, platelets show absence of the glycoprotein IIb-IIIa complexes at their surface and lack fibrinogen and clot retraction capability. In type II, the platelets express the GPIIb-IIIa complex at reduced levels, have detectable amounts of fibrinogen, and have low or moderate clot retraction capability.
Mondo Term and Equivalent IDs
MONDO:0100326:  Glanzmann thrombasthenia
OMIMPS:273800: