Rare Disease Library

Hereditary fructose intolerance

Hereditary fructose-1-phosphate aldolase deficiency · Hereditary fructosemia

Dehydrated hereditary stomatocytosis

Hereditary xerocytosis

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

Familial thrombocytosis

Familial thrombocythemia · Hereditary thrombocythemia

Hereditary arginine vasopressin deficiency

Hereditary CDI · Hereditary neurogenic diabetes insipidus

Hereditary ataxia

Hereditary hyperekplexia

Congenital stiff man syndrome · Familial startle disease

Hereditary neuroendocrine tumor of small intestine

Small intestine hereditary neuroendocrine tumor · Hereditary neuroendocrine tumor of small bowel

Hereditary palmoplantar keratoderma

Hereditary PPK · Hereditary keratosis palmoplantaris

Hereditary progressive cardiac conduction defect

Hereditary Lenègre disease · Hereditary Lev disease

Hereditary renal hypouricemia

Familial renal hypouricemia

Hereditary steroid-resistant nephrotic syndrome

Familial idiopathic steroid-resistant nephrotic syndrome · Hereditary SRNS

Hereditary xanthinuria

Classic xanthinuria · Xanthic urolithiasis