Disease Directory

Hereditary glaucoma is a group of rare eye disorders characterized by elevated intraocular pressure and changes in the optic nerve head that can lead...

Hereditary glaucoma, primary closed-angle is an ocular condition that involves increased pressure within the eye, potentially leading to damage of the...

Hereditary hemochromatosis is an inherited metabolic disorder characterized by excessive iron accumulation in the body's tissues. Variants in the HFE,...

Hereditary hemophagocytic lymphohistiocytosis is a condition arising from inherited genomic modifications that affect immune regulation. It is associa...

Hereditary hemorrhagic telangiectasia is a disorder of angiogenesis, which means the process of forming new blood vessels does not occur normally. Thi...

Hereditary hemorrhagic telangiectasia type 3 (HHT3) is a rare vascular disorder characterized by the development of abnormal blood vessels, leading to...

Hereditary hemorrhagic telangiectasia type 4 (HHT4) is characterized by its autosomal dominant inheritance pattern, meaning that a single copy of the...

Hereditary hyperbilirubinemia is an inherited condition that disrupts the normal metabolism of bilirubin, leading to elevated levels of this substance...

Hereditary hypercarotenemia and vitamin A deficiency is an extremely rare metabolic disorder characterized by abnormally high levels of beta-carotene...

Hereditary hyperekplexia is a neurological condition marked by an unusually exaggerated startle response and increased muscle stiffness. It is caused...

Hereditary hyperparathyroidism is an inherited form of hyperparathyroidism that results from a genomic modification. This condition is linked to alter...

Hereditary hypoparathyroidism is an inherited form of hypoparathyroidism caused by a genomic alteration, where the body produces insufficient parathyr...

Hereditary hypophosphatemic rickets is a group of genetic disorders marked by low blood phosphate levels that lead to rickets and resulting bone defor...

Hereditary hypophosphatemic rickets with hypercalciuria is a very rare inherited renal phosphate-wasting disorder that primarily affects bone minerali...

Hereditary inclusion body myopathy type 4 is a rare non-dystrophic muscle disorder characterized by slowly progressive muscular weakness and atrophy....

Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome is a rare neuromuscular condition that primarily affects muscle strengt...

Hereditary inclusion-body myopathy is a muscle disorder that primarily affects the skeletal muscles. It is associated with genetic variants in genes s...