Orphanet Journal of Rare Diseases is an open access, peer-reviewed journal that encompasses all aspects of rare diseases and orphan drugs. The journal publishes high-quality reviews on specific rare diseases. In addition, the journal may consider articles on clinical trial outcome reports, either positive or negative, and articles on public health issues in the field of rare diseases and orphan drugs. The journal does not accept case reports.

《Orphanet Journal Of Rare Diseases》是一本由BMC出版商出版的专业医学期刊，该刊创刊于2006年，刊期Irregular，该刊已被国际权威数据库SCIE收录。在中科院最新升级版分区表中，该刊分区信息为大类学科：医学 2区，小类学科：遗传学 3区；医学：研究与实验 3区；在JCR（Journal Citation Reports）分区等级为Q2。该刊发文范围涵盖遗传学等领域，旨在及时、准确、全面地报道国内外遗传学工作者在该领域取得的最新研究成果、工作进展及学术动态、技术革新等，促进学术交流，鼓励学术创新。2021年影响因子为4.303，平均审稿速度偏慢,4-8周。