PhenOMIM：一个基于在线人类孟德尔遗传（OMIM）的二级数据库，旨在用于表型比较。
PhenOMIM: an OMIM-based secondary database purported for phenotypic comparison.
作者信息
van Triest Han J W, Chen Danqi, Ji Xinglai, Qi Shouliang, Li-Ling Jesse
机构信息
Sino-Dutch Biomedical and Information Engineering School, Northeastern University, Shenyang 110003, China.
出版信息
Annu Int Conf IEEE Eng Med Biol Soc. 2011;2011:3589-92. doi: 10.1109/IEMBS.2011.6090600.
Phenotypic comparison may provide crucial information for obtaining insights into molecular interactions underlying various diseases. However, few attempts have been made to systematically analyze the phenotypes of hereditary disorders, mainly owing to the poor quality of text descriptions and lack of a unified system of descriptors. Here we present a secondary database, PHENOMIM, for translating the phenotypic data obtained from the Online Mendelian Inheritance in Man (OMIM) database into a structured form. Moreover, a web interface has also been developed for visualizing the data and related information from the OMIM and PhenOMIM databases. The data is freely available online for reviewing and commenting purposes and can be found at http://faculty.neu.edu.cn/bmie/han/PhenOMIM/.
表型比较可为深入了解各种疾病背后的分子相互作用提供关键信息。然而，很少有人尝试系统地分析遗传性疾病的表型，主要原因是文本描述质量差以及缺乏统一的描述符系统。在此，我们展示了一个二级数据库PHENOMIM，用于将从《人类孟德尔遗传在线》（OMIM）数据库中获取的表型数据转化为结构化形式。此外，还开发了一个网络界面，用于可视化来自OMIM和PhenOMIM数据库的数据及相关信息。这些数据可在网上免费获取，以供查阅和评论，网址为http://faculty.neu.edu.cn/bmie/han/PhenOMIM/ 。
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