PhenOMIM: An OMIM-based secondary database purported for phenotypic comparison

PhenOMIM: An OMIM-based secondary database purported for phenotypic comparison

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...

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Bibliographic Details
Main Authors: van Triest, H. J. W., Danqi Chen, Xinglai Ji, Shouliang Qi, Li-Ling, J.
Format: Conference Proceeding
Language:eng
Subjects:
Bioinformatics
Diseases
Genetics
Humans
Ontologies
Vocabulary
Online Access:Get full text
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Summary: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/.
ISSN:1094-687X
1558-4615
2694-0604