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

Date of Resource 2019

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