Rare Disease Library

Stormorken-Sjaastad-Langslet syndrome

Thrombocytopathy-asplenia-miosis syndrome · Stormorken syndrome

Actinomyopathy-associated syndromic thrombocytopenia

ACTB-AST

Braddock-Carey syndrome

Thrombocytopenia-Robin sequence syndrome

Epstein syndrome

Alport syndrome with macrothrombocytopenia

Kasabach-Merritt phenomenon

Hemangioma-thrombocytopenia syndrome

Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome

MLT · Cutaneovisceral angiomatosis-thrombocytopenia syndrome

MYH9-related syndromic thrombocytopenia

MYH9-RD · MYH9-related disorder

Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome

ATRUS syndrome

Thrombocytopenia-absent radius syndrome

TAR syndrome