Rare Disease Library

Familial thrombocytosis

Familial thrombocythemia · Hereditary thrombocythemia

Dehydrated hereditary stomatocytosis

Hereditary xerocytosis

Essential thrombocythemia

ET · Essential thrombocytosis

Familial calcium pyrophosphate deposition

Calcium pyrophosphate dihydrate crystal deposition disease · Familial CC

Familial hypercholanemia

Hereditary hypercholanemia

Familial thoracic aortic aneurysm and aortic dissection

Familial TAAD · FTAAD

Hereditary arginine vasopressin deficiency

Hereditary CDI · Hereditary neurogenic diabetes insipidus

Hereditary ataxia

Hereditary fructose intolerance

Hereditary fructose-1-phosphate aldolase deficiency · Hereditary fructosemia

Hereditary palmoplantar keratoderma

Hereditary PPK · Hereditary keratosis palmoplantaris

Hereditary thrombocytopenia with normal platelets

Isolated hereditary giant platelet disorder

Isolated inherited giant platelet disorder · Isolated inherited macrothrombocytopenia

Rare hereditary thrombophilia

Thrombocythemia with distal limb defects

Familial thrombocytosis with transverse limb defect · Hereditary thrombocytosis with transverse limb defect