Rare Disease Library

Kasabach-Merritt phenomenon

Hemangioma-thrombocytopenia syndrome

Actinomyopathy-associated syndromic thrombocytopenia

ACTB-AST

Ataxia-pancytopenia syndrome

ATXPC syndrome · SAMD9L-related ataxia-pancytopenia syndrome

Autoimmune thrombocytopenia

Beta-thalassemia-X-linked thrombocytopenia syndrome

XLTT

Braddock-Carey syndrome

Thrombocytopenia-Robin sequence syndrome

DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome

DIAPH1-related sensorineural deafness-thrombocytopenia syndrome

Epstein syndrome

Alport syndrome with macrothrombocytopenia

Immune thrombocytopenia

ITP · Immune thrombocytopenic purpura

Isolated constitutional thrombocytopenia

Non-syndromic constitutional thrombocytopenia · Constitutional thrombocytopenia without extra-hematopoietic manifestations

May-Hegglin thrombocytopenia

MHA · May-Hegglin anomaly

Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome

MLT · Cutaneovisceral angiomatosis-thrombocytopenia syndrome

MYH9-related syndromic thrombocytopenia

MYH9-RD · MYH9-related disorder

Periodic fever-immunodeficiency-thrombocytopenia syndrome

PFITS

Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome

ATRUS syndrome

Stormorken-Sjaastad-Langslet syndrome

Thrombocytopathy-asplenia-miosis syndrome · Stormorken syndrome

Syndromic constitutional thrombocytopenia

Thrombocytopenia-absent radius syndrome

TAR syndrome

Wiskott-Aldrich syndrome

Eczema-thrombocytopenia-immunodeficiency syndrome · WAS