Task diseaseInfo

• For the disease that we have assigned to you, look up the diesease in HGMD, Wikipedia, OMIM and any other resource you find.
• Document the resources you have found in this Wiki (resources section).
• Produce a 5 min presentation for our first practical session.
• Document the information about the disease in this Wiki. Create a link in section Diseases, see Example/Template for a suggestions how to structure the information.
• Here is a minimal list of aspects to look for:
  • Phenotypic description of the disease.
  • Biochemical disease mechanism.
  • Current knowledge about mutations associated with the disease.