Rare Disease Library

Epstein syndrome

Alport syndrome with macrothrombocytopenia

Alport syndrome

Alport hearing loss-nephropathy · Alport deafness-nephropathy

Autosomal dominant macrothrombocytopenia

Braddock-Carey syndrome

Thrombocytopenia-Robin sequence syndrome

Fechtner syndrome

Alport syndrome with leukocyte inclusions and macrothrombocytopenia

Isolated hereditary giant platelet disorder

Isolated inherited giant platelet disorder · Isolated inherited macrothrombocytopenia

Kasabach-Merritt phenomenon

Hemangioma-thrombocytopenia syndrome

Macrothrombocytopenia with mitral valve insufficiency

Medich giant platelet syndrome

Medich macrothrombocytopenia

Mediterranean macrothrombocytopenia

MYH9-related syndromic thrombocytopenia

MYH9-RD · MYH9-related disorder

Sebastian syndrome

Macrothrombocytopenia with leukocyte inclusions

Severe autosomal recessive macrothrombocytopenia

Stormorken-Sjaastad-Langslet syndrome

Thrombocytopathy-asplenia-miosis syndrome · Stormorken syndrome

Thrombocytopenia-absent radius syndrome

TAR syndrome