Orphanet is the reference portal for information on rare diseases and orphan drugs, for all audiences. Offers: An inventory and classification of rare diseases; an encyclopedia of rare diseases in English and French; an inventory of orphan drugs; a directory of expert resources for Orphanet’s consortium members; assistance-to-diagnosis tool allowing users to search by signs and symptoms; recommendations and guidelines, and newsletter.

Type Website
CME Available No
Cost Free

Genomic Competencies

Experts from the disciplines listed below have tagged this resource as fulfulling genomic competencies.


  • Family History
    • P-FH1H:   Personal and Professional Development
      • 1H1:   Identify sources of information on genetic disorders, such as OMIM (online Mendelian Inheritance in Man) and GeneReviews
  • Patient Treatment Based on Genomic Results
    • P-PM3A:   Patient Care
      • 3A1:   Identify medical conditions and drug responses that have a strong genetic component
    • P-PM3H:   Personal and Professional Development
      • 3H2:   Be familiar with the available databases and resources relevant to genetic variation, including ongoing clinical trials involving patients with genetic disorders, pharmacogenomics, and patient-oriented Internet resources from reliable organizations