The World Health Organization (WTO) defines rare diseases as diseases or lesions between 0.65 and 1‰ of the total population. Currently, there are between 7,000 and 8,000 rare diseases, accounting for about 10% of human diseases. Most rare diseases are genetic, and thus are present throughout the person's entire life, which greatly affect the lives of patients and their families. Early genetic testing and genetic counseling are important for symptomatic treatment and supportive care.
How to site the dataset :
To respect the results of the dataset creator and updater, it is recommended to reference the dataset accession ID in the article ：
The dataset that support this study is DATAXXXXXX which was created in CNGBdb（https://db.cngb.org）