liveonearth: (Default)
congenital = present at birth
hereditary = inherited
familial = runs in family
genetic = caused by gene

reduced penetrance often at work in dominant diseases: genotype does not "penetrate" to phenotype

notes on osteogenesis imperfecta, neurofibromatosis, achondroplasia, marfan syndrome, polycystic kidney disease )
liveonearth: (Default)
It's commonly known that scurvy is caused by vitamin C deficiency. The Latin name for the disease is scorbutus, and the name "ascorbic acid" (for vit C) is derived from this name of the disease. It was first described by Hippocrates about 300-400 BC, and was common among pirates and naval sailors until the 1900's.

Learn all about it )

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