Disease Directory

Hereditary neuromuscular disease represents a heterogeneous group of genetic conditions characterized by progressive muscle degeneration and weakness....

Hereditary neuropathy with liability to pressure palsies (HNPP) is an inherited disorder that affects the peripheral nerves. It is marked by episodes...

Hereditary nonpolyposis colon cancer is a condition that predisposes individuals to developing colorectal cancer as well as cancers of the endometrium...

Hereditary optic atrophy is a family of inherited disorders marked by the progressive loss of vision due to the degeneration of the retinal ganglion c...

Hereditary optic neuropathy is a condition that primarily affects the optic nerve and vision. Current research has implicated variants in genes such a...

Hereditary otorhinolaryngologic disease is a condition affecting the ear, nose, and throat system that arises due to changes in the individual’s genom...

Hereditary painful callosities is a form of nummular palmoplantar keratoderma that is characterized by the development of painful, thickened skin lesi...

Hereditary palmoplantar keratoderma is an inherited skin condition that primarily affects the palms of the hands and the soles of the feet, leading to...

Hereditary papillary renal cell carcinoma is a familial form of kidney cancer characterized by the development of multiple papillary tumors in both ki...

Hereditary periodic fever syndrome is an inherited condition characterized by recurrent episodes of fever and inflammation. It is linked to genetic al...

Hereditary peripheral neuropathy is an inherited condition that affects the peripheral nerves, leading to potential issues with sensation, movement, a...

Hereditary persistence of fetal hemoglobin is a condition in which significant production of fetal hemoglobin continues into adulthood. It is consider...

Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome is a blood disorder characterized by unusually high levels of fetal hemoglobin al...

Hereditary persistence of fetal hemoglobin-intellectual disability syndrome is a very rare condition characterized by the continued presence of fetal...

Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome is a rare genetic hemoglobinopathy characterized by high levels of fetal hemog...

Hereditary pheochromocytoma-paraganglioma is a condition that predisposes individuals to develop tumors arising from neuroendocrine tissues, including...

Hereditary photodermatosis is a group of uncommon disorders characterized by a marked sensitivity to sunlight and an increased risk of skin cancers. T...