Portal:RareDisease/Intro
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as a central organizing point for exploring, curating and expanding the collection of rare disease pathways. [[Image:Wordcloud2.png|400px|Image: 400 pixels|right|Image on right]] | as a central organizing point for exploring, curating and expanding the collection of rare disease pathways. [[Image:Wordcloud2.png|400px|Image: 400 pixels|right|Image on right]] | ||
| - | A rare or orphan disease is a disease which affects relatively few people. The exact definition varies | + | A rare or orphan disease is a disease which affects relatively few people. The exact definition varies <br /> |
| - | between 1:1000 and 1:200.000. E.g. it can be 1:1500 (USA) , 1:2000 (EU) or 1:2500 (Japan). Rare diseases | + | between 1:1000 and 1:200.000. E.g. it can be 1:1500 (USA) , 1:2000 (EU) or 1:2500 (Japan). Rare diseases <br /> |
| - | are mostly caused by genetic variation making them chronic and hard to cure. The severity depends on | + | are mostly caused by genetic variation making them chronic and hard to cure. The severity depends on <br /> |
the affected gene and its physiological implications. | the affected gene and its physiological implications. | ||
| + | |||
| + | This portal is also featured in the latest [https://doi.org/10.1093/nar/gkaa1024 NAR Database Issue on WikiPathways]. | ||
This portal is funded by: | This portal is funded by: | ||
Current revision
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.
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 also featured in the latest NAR Database Issue on WikiPathways.
This portal is funded by:
