Portal:Disease/SpecialIssue

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(updated link to ALS pathway)
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* [[:Pathway:WP3584|MECP2 and Associated Rett Syndrome]]
* [[:Pathway:WP3584|MECP2 and Associated Rett Syndrome]]
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* [[:Pathway:WP2847|Amyotrophic lateral sclerosis (ALS) SOD1 - CHMP2B MODEL]]
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* [[:Pathway:WP2447|Amyotrophic lateral sclerosis (ALS) SOD1 - CHMP2B MODEL]]
* [[:Pathway:WP3569|Fanconi Anemia Pathway]]
* [[:Pathway:WP3569|Fanconi Anemia Pathway]]
[http://www.orpha.net/consor/cgi-bin/index.php Database for rare diseases (ORPHANET)]
[http://www.orpha.net/consor/cgi-bin/index.php Database for rare diseases (ORPHANET)]

Revision as of 22:08, 3 July 2017

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. Rare disease pathways on WikiPathways:


Database for rare diseases (ORPHANET)