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Nucleic Acids Res. 2009 Jan;37(Database issue):D793-6. doi: 10.1093/nar/gkn665. Epub 2008 Oct 8.

McKusick's Online Mendelian Inheritance in Man (OMIM).

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  • 1McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.


McKusick's Online Mendelian Inheritance in Man (OMIM; http://www.ncbi.nlm.nih.gov/omim), a knowledgebase of human genes and phenotypes, was originally published as a book, Mendelian Inheritance in Man, in 1966. The content of OMIM is derived exclusively from the published biomedical literature and is updated daily. It currently contains 18,961 full-text entries describing phenotypes and genes. To date, 2239 genes have mutations causing disease, and 3770 diseases have a molecular basis. Approximately 70 new entries are added and 700 entries are updated per month. OMIM is expanding content and organization in response to shifting biological paradigms and advancing biotechnology.

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