A rare disease has such a low prevalence in a population that a doctor in a busy general practice would not expect to see more than one case a year. Rare diseases, including those of genetic origin, are life-threatening or chronically debilitating diseases which are of such low prevalence that special combined efforts are needed to address them. As a guide, low prevalence is taken as prevalence of less than 5 per 10,000 in the Community [1].

Rare diseases will vary from population to population, as a disease that is rare in some populations may be common in another. This is especially true of some genetic and infectious diseases. For example, cystic fibrosis is a rare genetic disease in most parts of Asia but is relatively common in some Eurasian populations. Many infectious diseases, such as tropical diseases, are rare outside a given geographic area.

See also List of common diseases.

List of rare diseases

Note: The links below lead to sections of a list of rare diseases that was originally taken from the NIH public domain resource at http://ord.aspensys.com/diseases.asp.

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

See also

• Orphan drugs

External links

Rare diseases organizations:

• Europe:
  • Eurordis -- European Organization for Rare Diseases
  • EUROCAT: European network of population based registries for congenital anomalies.
  • List of projects funded by year.
  • Key documents.
  • DG SANCO Task Force on Rare Diseases; Two day conference on Rare Diseases 2005
  • DG RESEARCH, TECHNOLOGICAL DEVELOPMENT AND DEMONSTRATION 6TH FRAMEWORK PROGRAMME (2002-2006): Life sciences, genomics and biotechnology for health.
  • Orphanet: database of rare diseases.
  • Orphan medicinal products.
  • Committee for Orphan Medicinal Products (COMP) of the European Agency for the Evaluation of Medicinal Products (EMEA).
• USA: National Organization for Rare Disorders