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

      , , , *

      Nucleic Acids Research

      Oxford University Press

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          Abstract

          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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          Most cited references 5

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          Mendelian inheritance in man: A catalog of human genes and genetic disorders

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            Mendelian Inheritance in Man A Catalog of Human Genes and Genetic Disorders

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              Mendelian Inheritance in Man, A Catolog of Autosomal Dominant, Autosomal Recessive, and X-linked Phenotypes

               VA McKusick (1966)
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                Author and article information

                Journal
                Nucleic Acids Res
                Nucleic Acids Res
                nar
                nar
                Nucleic Acids Research
                Oxford University Press
                0305-1048
                1362-4962
                January 2009
                January 2009
                7 October 2008
                7 October 2008
                : 37
                : Database issue , Database issue
                : D793-D796
                Affiliations
                McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland
                Author notes
                *To whom correspondence should be addressed. Tel: 410 614 3313; Fax: 410 955 4999; Email: ahamosh@ 123456jhmi.edu
                Article
                gkn665
                10.1093/nar/gkn665
                2686440
                18842627
                © 2008 The Author(s)

                This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License ( http://creativecommons.org/licenses/by-nc/2.0/uk/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

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                Genetics

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