Disease Directory

Familial adenomatous polyposis due to 5q22.2 microdeletion is a condition associated with the development of numerous adenomatous polyps in the colon,...

Familial adrenal hypoplasia with absent pituitary luteinizing hormone is an inherited endocrine condition characterized by adrenal underdevelopment an...

Familial amyloid neuropathy is a rare systemic disorder that primarily affects the peripheral nerves and the heart, leading to progressive sensorimoto...

Familial amyotrophic lateral sclerosis is an inherited form of amyotrophic lateral sclerosis, a condition primarily affecting the motor system. It res...

Familial antiphospholipid syndrome, also known as Hughes syndrome, is a form of antiphospholipid syndrome that follows an autosomal dominant inheritan...

Familial apolipoprotein C-II deficiency is an ultra-rare metabolic disorder that primarily affects lipid metabolism. It results from pathogenic varian...

Familial apolipoprotein gene cluster deletion syndrome is a genetic condition associated with a deletion affecting the apolipoprotein gene cluster. Al...

Familial atrial myxoma is a very rare cardiac condition that primarily affects the heart, where benign tumors known as myxomas can develop. The condit...

Familial atrioventricular septal defect is a cardiac condition characterized by a spectrum of structural defects involving the atrial septum, ventricu...

Familial avascular necrosis of the femoral head is a severely disabling condition affecting the hip joint. The disease is characterized by progressive...

Familial benign copper deficiency is a rare disorder of mineral absorption and transport that leads to low copper levels in the body. It typically man...

Familial bicuspid aortic valve is a rare genetic condition affecting the heart’s aortic valve, where the valve is abnormally formed with two leaflets...

Familial cardiomyopathy is an inherited form of heart muscle disease that arises from a modification in the genome. This condition primarily affects t...

Familial caudal dysgenesis is a rare genetic developmental disorder that affects the lower spine and adjacent organ systems. It is characterized by va...