Example/Template

Summary

The example disease causes the example syndrome.

Phenotype

Phenotypic description of the disease. 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

• Create one page per mutated sequence.

Disease causing mutations

• Create one page per mutated sequence.