PhenOMIM: an OMIM-based secondary database purported for phenotypic comparison.

Autor: van Triest HJ; Sino-Dutch Biomedical and Information Engineering School, Northeastern University, Shenyang 110003, China. han@bmie.neu.edu.cn, Chen D, Ji X, Qi S, Li-Ling J
Jazyk: angličtina
Zdroj: Annual International Conference of the IEEE Engineering in Medicine and Biology Society. IEEE Engineering in Medicine and Biology Society. Annual International Conference [Annu Int Conf IEEE Eng Med Biol Soc] 2011; Vol. 2011, pp. 3589-92.
DOI: 10.1109/IEMBS.2011.6090600
Abstrakt: 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/.
Databáze: MEDLINE