A rare disease, also referred to as an orphan disease, is any disease that affects a small percentage of the population. Most rare diseases are genetic, and thus are present throughout the person's entire life, even if symptoms do not immediately appear. Many rare diseases appear early in life, and about 30 percent of children with rare diseases will die before reaching their fifth birthday. With a single diagnosed patient only, ribose-5-phosphate isomerase deficiency is presently considered the rarest genetic disease. No single cutoff number has been agreed upon for which a disease is considered rare. A disease may be considered rare in one part of the world, or in a particular group of people, but still be common in another. Rare diseases usually are genetic, hence chronic. EURORDIS estimates that at least 80% of them have identified genetic origins.Other rare diseases are the result of infections and allergies or due to degenerative and proliferative causes. Classification of a disease's rarity also depends on the population being studied. Every form of cancer is rare among children, but some forms are common among adults. Symptoms of some rare diseases may appear at birth or in childhood, whereas others only appear once adulthood is reached. Research publications emphasize rare diseases that are chronic or incurable, although many short-term medical conditions are also rare diseases.
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