Example/Template

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Revision as of 14:05, 26 April 2011 by Andrea (talk | contribs) (Phenotype)

Summary

The example disease causes the example syndrome.

Phenotype

Phenotypic description of the disease. (Describe this in your own words, avoid plagiarism. Summarise the information from different sources.) See also description of this disease in

  • specific link to Wikipedia
  • specific link to HGMD
  • specific link to OMIM

... (see databases in "resources")

Biochemical disease mechanism

The example protein is involved in the example pathway...

See also

  • link to KEGG
  • link to MetaCyc

... (see databases in "resources"

Mutations

Current knowledge about mutations associated with the disease. - Separate into disease causing and neutral mutations.

Reference sequence

Which sequence does not cause the disease and is most often found in the population. -

  • Create a page for the reference sequence.

Neutral mutations

Disease causing mutations