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. [tier=silver indep_score=0.925 clusters=2 claim_tier=notable | framework convergence=single on Orphanet database (2018 snapshot) as analyzed in Nguengang Wakap et al. 2020 EJHG paper (upstreams: Orphanet database) — publishers independent, evidence may not be | kind=empirical eligibility=high]
Sources
- Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database | European Journal of Human Genetics (seed:anatomy_and_medical_oddities)
- https://pubmed.ncbi.nlm.nih.gov/31527858/ (corroboration)
- https://www.orpha.net/ (corroboration)