Disease Directory

Familial isolated dilated cardiomyopathy is a condition that primarily affects the heart, characterized by an enlarged left ventricle and impaired sys...

Familial isolated hyperparathyroidism is a rare hereditary syndrome characterized by elevated parathyroid hormone levels and hypercalcemia resulting f...

Familial isolated hypoparathyroidism due to agenesis of the parathyroid gland is an endocrine disorder in which the parathyroid glands are incompletel...

Familial isolated hypoparathyroidism due to impaired PTH secretion is an endocrine condition that affects the regulation of parathyroid hormone, which...

Familial isolated pituitary adenoma (FIPA) is a condition characterized by the development of benign tumors in the pituitary gland, an important endoc...

Familial juvenile hyperuricemic nephropathy type 1 is a rare kidney disorder characterized by early onset hyperuricemia, progressive nephropathy, and...

Familial lipoprotein lipase deficiency is a rare metabolic disorder that impairs the body’s ability to break down dietary fats. This condition results...

Familial long QT syndrome is a hereditary cardiac condition marked by a prolonged QT interval on electrocardiograms and a predisposition to life-threa...

Familial male-limited precocious puberty is a gonadotropin-independent endocrine condition that causes early onset of pubertal changes in young boys,...