| Disease ID | Source | Name | Description |
| 273800 | OMIM | Glanzmann thrombasthenia (GT) | 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. The disease is caused by variants affecting the gene represented in this entry. |
| 187800 | OMIM | Bleeding disorder, platelet-type 16 (BDPLT16) | An autosomal dominant form of congenital macrothrombocytopenia associated with platelet anisocytosis. It is a disorder of platelet production. Affected individuals may have no or only mildly increased bleeding tendency. In vitro studies show mild platelet functional abnormalities. The disease is caused by variants affecting the gene represented in this entry. |