As of the 2018 analysis, the Orphanet database contained descriptions of 6172 clinically unique rare diseases.
Notes on verification
Confirmed by the specific peer-reviewed source (Nguengang Wakap et al., EJHG 2020) which explicitly states this figure from the Orphanet database analysis; consistent with widely cited literature.
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)