Disease Index

Human disease

metal metabolism disorder characterized by the accumulation of iron in various organs of the body

human disease

genetic disorder involving capillaries

Hereditary hypercarotenemia and vitamin A deficiency is an extremely rare metabolic disorder characterized clinically by skin discoloration, elevated levels of carotene and low levels of vitamin A described in fewer than 5 patients to date

Hereditary hyperferritinemia with congenital cataracts is characterized by the association of early onset (although generally absent at birth) cataract with persistently raised plasma ferritin concentrations in the absence of iron overload

Human disease

human disease

Hereditary inclusion body myopathy type 3 is characterised by congenital joint contractures (normalizing during early childhood), external ophthalmoplegia, and proximal muscle weakness. In adult cases, the muscular weakness is progressive.

Wikimedia disambiguation page

human disease

human disease

An inherited cancer syndrome characterized by cutaneous leiomyomas, uterine fibroids, and aggressive renal cell carcinomas. Caused by mutations in the FH gene encoding fumarate hydratase. Affects approximately 1 in 200,000 individuals and requires regular cancer surveillance.

Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a hereditary cancer syndrome characterized by a predisposition to cutaneous and uterine leiomyomas and, in some families, to renal cell cancer

lymphedema commonly located in legs, caused by congenital abnormalities in the lymphatic system

hereditary lymphedema characterized by autosomal dominant inheritance of chronic, generally painless, lower limb lymphedema with onset typically at birth or in early childhood

hereditary lymphedema characterized by onset around puberty of chronic lymphedema particularly in the lower limbs with an apparent autosomal dominant pattern of inheritance

congenital disorder of nervous system

human disease

medical condition

medical condition

skin disease characterized by a defect in the normal process of keratinization of the mucosa

exostosis that has material basis in a mutation on the genes EXT1, EXT2 and EXT3 which results in multiple bony spurs throughout a child's growth

Aconitase deficiency is characterised by myopathy with severe exercise intolerance and deficiencies of skeletal muscle succinate dehydrogenase and aconitase

human disease

neuralgic disorder