Supported Diseases
Congenital thrombotic thrombocytopenic purpura
Synonyms:
TTP, congenital, Thrombotic thrombocytopenic purpura, familial, Microangiopathic hemolytic anemia, Upshaw-Schulman syndrome, USS, Schulman-Upshaw syndrome, Upshaw factor, deficiency of, Microangiopathic hemolytic anemia, congenital, Thrombotic microangiopathy, familial, Thrombotic thrombocytopenic purpura, congenital
Gray platelet syndrome
Synonyms:
GPS, Platelet alpha-granule deficiency, Marked decrease or absence of alpha-granules and of platelet-specific alpha-granule proteins
Hermansky-Pudlak syndrome
Synonyms:
HPS, Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells, Hermansky Pudlak syndrome
MYH9 related thrombocytopenia
Synonyms:
MYH9 related disorders, Sebastian syndrome (subtype), May-Hegglin anomaly (subtype), Fechtner syndrome (subtype), Epstein syndrome (subtype), MYH9-RD, MYH9-related disease, MYH9-related disorder, MYH9-related syndrome, MYH9-related syndromic thrombocytopenia, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
TAR syndrome
Synonyms:
Thrombocytopenia absent radius syndrome, Absent radii and thrombocytopenia, Thrombocytopenia absent radii
Wiskott Aldrich syndrome
Synonyms:
WAS, Eczema thrombocytopenia immunodeficiency syndrome, Immunodeficiency 2, IMD 2, Aldrich syndrome