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口腔罕见病患病率低、临床特征复杂，因此目前口腔罕见病的范畴尚不明确。为统一认识、提高口腔罕见病诊治水平，本名录由中华口腔医学会口腔遗传病与罕见病专业委员会首任主任委员段小红主笔、全体委员讨论和通过，涵盖139种具有典型口腔和颅颌面异常特征的罕见病，涉及每种疾病的中文和简单释义，英文名称、患病率、国际疾病分类第11次修订本（International Classification of Diseases 11th Revision，ICD-11）代码、在线人类孟德尔遗传（Online Mendelian Inheritance in Man，OMIM）分类号及其对应链接、参考文献等信息请扫描二维码查询详细版。“,”Oral rare diseases are characterized by low prevalence and complex clinical features. It is not clear that which kind of diseases belong to oral rare diseases. In order to make a consensus and improve the level of diagnosis and treatment of oral rare diseases, Duan Xiaohong, the first chair of Society of Oral Genetic Diseases and Rare Diseases, Chinese Stomatological Association, progosed the first edition of oral rare diseases list, and the whole society discussed the list and finally made an agreement. The list includes 139 rare diseases with typical oral and craniofacial characteristics, and provides their Chinese names, English names, International Classification of Diseases 11th Revision (ICD-11) codes, Online Mendelian Inheritance in Man (OMIM) numbers, prevalence and simple interpretations.