Rare Disease Library

Isolated hereditary giant platelet disorder

Isolated inherited giant platelet disorder · Isolated inherited macrothrombocytopenia

Autosomal dominant macrothrombocytopenia

Epstein syndrome

Alport syndrome with macrothrombocytopenia

Familial thrombocytosis

Familial thrombocythemia · Hereditary thrombocythemia

Hereditary isolated aplastic anemia

Hereditary thrombocytopenia with early-onset myelofibrosis

Hereditary thrombocytopenia with normal platelets

Isolated constitutional thrombocytopenia

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

Isolated familial medullary thyroid carcinoma

Hereditary isolated MTC · Isolated familial MTC

May-Hegglin thrombocytopenia

MHA · May-Hegglin anomaly

Medich giant platelet syndrome

Medich macrothrombocytopenia

Mediterranean macrothrombocytopenia

Sebastian syndrome

Macrothrombocytopenia with leukocyte inclusions