rare disease
Sign in to saveAlso known as rare disorder, rare diseases, rare disorders
disease that affects a small percentage of the population
Wikidata facts
- Subclass of
- disease
- Image
- Central Core Myopathy.JPEG
Show 5 more facts
- topic's main category
- Category:Rare diseases
- Commons category
- Rare diseases
- NCI Thesaurus ID
- C4873
- exact match
- www.orpha.net/ORDO/Orphanet_377794
- short name
- SE
Sources (2)
via Wikidata · CC0
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Encyclopedic overview
A rare disease is any disease that affects a small percentage of the population. In some parts of the world, the term orphan disease describes a rare disease whose rarity results in little or no funding or research for treatments, without financial incentives from governments or other agencies. Orphan drugs are medications targeting orphan diseases.
Most rare diseases are genetic in origin 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% of children with rare diseases will die before reaching their fifth birthdays. Fields condition is considered the rarest known disease, affecting three known individuals, two of whom are identical twins. With four diagnosed patients in 27 years, ribose-5-phosphate isomerase deficiency is considered the second rarest.
Excerpted from Wikipedia’s “rare disease” article, available under the CC BY-SA 4.0 licence.