As of the 2018 analysis, the Orphanet database contained descriptions of 6172 clinically unique rare diseases.
Sources
- Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database | European Journal of Human Genetics (nature.com)
- https://pubmed.ncbi.nlm.nih.gov/31527858/ (pubmed.ncbi.nlm.nih.gov)
- https://www.orpha.net/ (orpha.net)
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