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Orphanet
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Rare disease database
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Disease and pathway maps for Rare Diseases
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Wikipedia

Orphanet is an organisation and knowledge base dedicated to rare diseases as well as corresponding diagnosis, orphan drugs, clinical trials and expert networks.

Elsewhere
Websiteorpha.net
Instance of
Organization
Knowledge organization system
Biological database
ELIXIR Core Data Resource
Subject
Rare disease
References
Wikidata