Example/Template

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Revision as of 15:05, 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.)

Cross-references

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