Disease Directory

Hyperinsulinism due to glucokinase deficiency is a metabolic condition characterized by uncontrolled insulin secretion resulting in episodes of low bl...

Hyperinsulinism-hyperammonemia syndrome (HIHA) is a metabolic disorder that primarily affects the regulation of insulin secretion and ammonia metaboli...

Hyperkalemic periodic paralysis is a muscle disorder characterized by episodic attacks of muscle weakness that occur in association with elevated pota...

Hyperkalemic renal tubular acidosis is a form of renal tubular acidosis in which the kidney’s distal tubule has a generalized transport abnormality th...

Hyperkeratosis lenticularis perstans is a skin condition characterized by persistent, keratotic areas that can appear as small, rough papules. It is a...

Hyperkeratosis-hyperpigmentation syndrome is a very rare skin condition characterized by tiny hyperpigmented spots on sun-exposed areas and mild punct...

Hyperlipidemia due to hepatic triglyceride lipase deficiency is a rare genetic disorder of lipid metabolism that results in markedly elevated levels o...

Hyperlipidemia, combined, 2 is a metabolic condition that affects the regulation of blood fats, including cholesterol and triglycerides. It is recogni...

Familial combined hyperlipidemia, LPL related is an inherited metabolic condition that primarily affects lipid regulation in the body. This condition...

Hyperlipoproteinemia type 3 is a combined hyperlipidemia characterized by elevated cholesterol and triglyceride levels carried by intermediate density...

Hyperlipoproteinemia type V is a severe lipid disorder characterized by an abnormal elevation of both plasma chylomicrons and very-low-density lipopro...

Hyperlipoproteinemia, type 1D is a rare inherited lipid disorder caused by mutations in the GPIHBP1 gene that disrupt normal lipid metabolism. This co...

Hyperlysinemia is a metabolic disorder characterized by abnormally high levels of lysine in the blood and cerebrospinal fluid. This condition results...

Hypermanganesemia with dystonia is a condition that primarily affects the nervous system, particularly manifesting as movement difficulties due to dys...

Hypermanganesemia with dystonia 2 is a rare neurologic condition marked by impaired movement and difficulties with feeding, primarily due to dystonia...

Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase is a very rare metabolic disorder that primarily affects neuromuscular developm...