Disease Directory

Hereditary intrinsic factor deficiency is a rare inherited condition that disrupts the absorption of vitamin B12, leading to megaloblastic anemia and...

Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a hereditary cancer syndrome. It is characterized by a tendency to develop benign tumors ca...

Hereditary lethal multiple congenital anomalies/dysmorphic syndrome is a severe condition characterized by multiple congenital anomalies and dysmorphi...

Hereditary lipodystrophy is an inherited metabolic condition characterized by an abnormal distribution of body fat and consequent metabolic disturbanc...

Hereditary macular dystrophy is an eye condition that primarily affects the central part of the retina, known as the macula, which is essential for cl...

Hereditary methemoglobinemia is an inherited condition that affects the blood’s capacity to deliver oxygen to tissues, leading primarily to a bluish d...

Hereditary mixed polyposis syndrome (HMPS) is an autosomal dominantly inherited condition affecting the large bowel. It is characterized by a mixture...

Hereditary motor and sensory neuropathy is a group of slowly progressive inherited disorders that primarily affect the peripheral nerves. This conditi...

Hereditary motor and sensory neuropathy type 6 is a very rare condition that affects the peripheral nerves responsible for motor and sensory functions...

Hereditary motor neuron disease is an inherited form of motor neuron disease that primarily affects the motor neurons responsible for controlling musc...

Hereditary multiple osteochondromas is a skeletal condition in which two or more cartilage-capped bony growths (osteochondromas) develop near the ends...

Hereditary myopathy with lactic acidosis due to ISCU deficiency is a genetic muscle disorder that primarily affects skeletal muscle function, leading...

Hereditary narcolepsy is an inherited form of narcolepsy that results from a genomic modification in an individual. This condition is associated with...

Hereditary neoplastic syndrome is an inherited condition characterized by a predisposition toward developing tumors. It is associated with pathogenic...

Hereditary neuro-ophthalmological disease is a condition that appears to affect both the neurological and visual systems. Although specific details ab...

Hereditary neurocutaneous angioma is a very rare condition marked by the presence of both cerebral and cutaneous angiomatous lesions. Clinical manifes...