Rare Disease Library

Isolated constitutional thrombocytopenia

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

Actinomyopathy-associated syndromic thrombocytopenia

ACTB-AST

Braddock-Carey syndrome

Thrombocytopenia-Robin sequence syndrome

Congenital neutropenia

Constitutional neutropenia

Kasabach-Merritt phenomenon

Hemangioma-thrombocytopenia syndrome

MYH9-related syndromic thrombocytopenia

MYH9-RD · MYH9-related disorder

Non-syndromic congenital phagocyte functional defect

Non-syndromic constitutional functional phagocyte defect · Non-syndromic congenital functional defect of phagocytes

Rare hemorrhagic disorder due to a constitutional platelet anomaly

Rare bleeding disorder due to a constitutional platelet anomaly · Rare bleeding disorder due to a constitutional thrombopathy and/or thrombocytopenia

Rare hemorrhagic disorder due to a constitutional thrombocytopenia

Rare hemorrhagic disorder due to a quantitative platelet defect · Rare bleeding disorder due to a quantitative platelet defect

Syndrome with congenital neutropenia as a major feature

Syndrome with constitutional neutropenia as a major feature · Syndrome with genetic neutropenia as a major feature

Syndromic constitutional thrombocytopenia

Thrombocytopenia-absent radius syndrome

TAR syndrome