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Spectrum and epidemiology of rare diseases in a Chinese natural population of 14.31 million residents, 2012–2023

7 Aug 2025

Abstract excerpt

BACKGROUND: Rare diseases, though individually uncommon, collectively affect a significant portion of the population. However, their epidemiology in China remains underexplored. A population-based rare disease registry comprising 14.31 million individuals was conducted between 2012 and 2023 by the Beijing Municipal Health Big Data and Policy Research Center. Rare disease cases were identified via ICD-10 codes...

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PMID: 40775651
DOI: 10.1186/s13023-025-03933-8

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