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

Hereditary hemorrhagic telangiectasia is a vascular disorder of angiogenesis that leads to abnormal arteriovenous connections, manifesting as mucocuta...

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 is a muscle disorder that primarily affects the skeletal muscles. It is associated with genetic variants in genes s...

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

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

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...