Other sources of information

Listed below are a number of different links and other useful search routes to information on rare diseases.




  • GARD, Genetics and Rare Diseases Information Center
  • GeneReviews, University of Washington
  • GeneTests, BioReference Laboratories
  • Genetics Home Reference, National Library of Medicine
  • Mayo Clinic, Mayo Foundation for Medical Education and Research
  • MedlinePlus, National Institute of Health
  • Medscape, WebMD Health Professional Network
  • NINDS, National Institute of Neurological Disorders and Stroke
  • NORD, National Organization for Rare Disorders
  • Office of Rare Diseases Research, National Center for Advancing Translational Sciences
  • OMIM, Online Mendelian Inheritance in Man, National Center for Biotechnology Information
  • PubMed, National Library of Medicine