Disease ID | Source | Name | Description |
139090 | OMIM | Gray platelet syndrome (GPS) | A rare platelet disorder characterized by a selective deficiency in the number and contents of platelet alpha-granules. It is associated with mild to moderate bleeding tendency and moderate thrombocytopenia. The platelets are enlarged and have a gray appearance on light microscopy of Wright-stained peripheral blood smears due to decreased granules. The disease is caused by variants affecting the gene represented in this entry. |