Rare Disease Library

Hereditary hyperekplexia

Congenital stiff man syndrome · Familial startle disease

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 episodic ataxia

Hereditary fructose intolerance

Hereditary fructose-1-phosphate aldolase deficiency · Hereditary fructosemia

Hereditary gingival fibromatosis

Autosomal dominant gingival fibromatosis · Autosomal dominant gingival hyperplasia

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

Hyperekplexia

Hypotrichosis simplex

Hereditary hypotrichosis simplex

Juvenile Paget disease

Familial osteoectasia · Hereditary hyperphosphatasia

X-linked acrogigantism

Hereditary infantile gigantism · Hereditary pituitary hyperplasia