由生物醫學中心出版。ISSN: 1750-1172。孤兒病雜志是一個開放獲取，同行評審的在線雜志，包括所有方面的罕見病和孤兒藥物。該雜志歡迎高質量的評論文章，涵蓋了診斷、臨床描述、臨床檢查和管理的所有方面，以及罕見疾病的病因學、流行病學和遺傳咨詢。它匯集了基礎研究和臨床實踐的知識。通過提供對優化診斷和管理至關重要的信息，孤兒院罕見病雜志旨在為改善罕見病患者的護理做出貢獻。該雜志為研究人員和臨床醫生提供了機會，發表罕見疾病和孤兒藥物領域的最新進展，以及發表新的綜合征和臨床試驗結果，包括那些陰性結果。

Published by BioMed Central. ISSN: 1750-1172.Orphanet Journal of Rare Diseases is an open access, peer-reviewed online journal that encompasses all aspects of rare diseases and orphan drugs. The journal welcomes high quality review articles encompassing all aspects of diagnosis, clinical description, clinical work-up and management as well as aetiopathogenesis, *epidemiology, and genetic counselling of rare diseases. It brings together knowledge of basic research and clinical practice. By providing this information, crucial for optimised diagnosis and management, the Orphanet Journal of Rare Diseases aims to contribute to the improved care of patients affected by rare diseases. The journal provides researchers and clinicians with the opportunity to publish state of the art developments in the area of rare diseases and orphan drugs as well as to publish new syndromes and results of clinical trials including those with negative results.