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Rare Disease pathways at WikiPathways

This portal highlights WikiPathways content related to rare genetic human diseases, and is designed

as a central organizing point for exploring, curating and expanding the collection of rare disease pathways.
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A rare or orphan disease is a disease which affects relatively few people. The exact definition varies between 1:1000 and 1:200.000. E.g. it can be 1:1500 (USA) , 1:2000 (EU) or 1:2500 (Japan). Rare diseases are mostly caused by genetic variation making them chronic and hard to cure. The severity depends on the affected gene and its physiological implications.

This portal is funded by:

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Explore rare disease pathways on WikiPathways:


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How to add a pathway to the portal

The list of Featured Pathways is not static and can be updated at any time. If you know of a pathway that should be added, please contact the administrator.


Featured Pathway


Special Issue: Rare diseases

We are currently planning to have a workshop on the development of new rare disease pathways, and using experimental FAIR data organized by the EJP RD later this year. Let us know if you are interested.



This project has received funding from the European Union’s Horizon 2020 research and innovation programme.

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