Fig. 1

Estimated rare disease percentages by healthcare system database and in the medical literature/published data sources. Percentage of patients with each of the 13 of the 14 representative rare diseases for which a percentage was able to be calculated (excludes CMT) in the 4 healthcare system databases, and disease percentage extrapolated to the US population from the medical literature/public data sources. SCD sickle cell disease, MD muscular dystrophy, CF cystic fibrosis, HHT hereditary hemorrhagic teleangiectasia, BD Batten disease, LGS Lennox Gastaut syndrome, FSGS focal segmental glomerulosclerosis, EOE eosinophilic esophagitis, OI osteogenesis imperfecta, MNGIE mitochondrial neurogastrointestinal encephalopathy, Pheo pheochromocytoma, TA Takayasu’s arteritis, CMT Charcot Marie Tooth disease, NCATS National Center for Advancing Translational Sciences, OHSU Oregon Health and Science University, Med Lit medical literature/public data sources