Disease Directory

Hereditary poikiloderma is a condition that has been linked to genetic alterations and is understood to affect the skin, leading to changes in appeara...

Hereditary progressive chorea without dementia is a neurological condition primarily characterized by involuntary, irregular movements and motor delay...

Hereditary progressive mucinous histiocytosis is a benign disorder classified among non-Langerhans cell histiocytoses. It is characterized by the grad...

Hereditary pulmonary alveolar proteinosis is a very rare primary interstitial lung disease that principally affects the lungs through abnormal accumul...

Hereditary recurrent myoglobinuria is an inborn error of metabolism that primarily affects skeletal muscle by causing repeated episodes of muscle fibe...

Hereditary renal cell carcinoma is an inherited form of kidney cancer that arises from genomic alterations. This condition results from changes in sev...

Hereditary renal hypouricemia is a rare condition that affects kidney function by impairing the reabsorption of urate in the proximal tubules. Althoug...

Hereditary retinoblastoma is an inherited condition primarily characterized by an increased risk for developing eye tumors in early childhood due to p...

Hereditary sclerosing poikiloderma, Weary type is a very rare inherited condition that primarily affects the skin, leading to distinctive changes in t...

Hereditary sebaceous gland anomaly is a condition arising from a modification of an individual’s genome that affects the sebaceous glands in the skin....

Hereditary sensorimotor neuropathy with hyperelastic skin is a condition that affects the peripheral nerves responsible for sensation and movement, wh...

Hereditary sensory and autonomic neuropathy is a group of inherited conditions that primarily affect the peripheral nervous system, leading to impaire...

Hereditary sensory and autonomic neuropathy type 1 is a slowly progressive neurological condition primarily affecting the peripheral nerves, leading t...

Hereditary sensory and autonomic neuropathy type 4 is an inherited disorder affecting the sensory and autonomic nervous systems, leading to an absence...

Hereditary sensory and autonomic neuropathy type 5 (HSAN5) is a disorder of the peripheral nervous system that primarily affects pain perception and t...

Hereditary sensory and autonomic neuropathy type 6 is a condition affecting the peripheral nerves and components of the autonomic nervous system, with...

Hereditary sensory and autonomic neuropathy type 7 (HSAN7) is a genetic disorder that primarily affects the peripheral nervous system and the regulati...