Fig. 1

The national system for rare diseases in China. Based on the definition of rare diseases, the national system for rare diseases in China currently carries out from three aspects: information collection and clinical research, diagnosis and treatment, as well as drug policies, with each part has some crucial policies. Specifically, the Compendium of China’s First List of Rare Diseases (2018) (CLRD) has made China the first country to delineate the boundaries of rare diseases in the form of a catalogue, which is the core innovation of the system. Representative work in each aspect is listed in the figure