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

McKusick's Online Mendelian Inheritance in Man (OMIM)

Joanna Amberger  1 , Carol A Bocchini, Alan F Scott, Ada Hamosh
Affiliations

McKusick's Online Mendelian Inheritance in Man (OMIM)

Joanna Amberger et al. Nucleic Acids Res. 2009 Jan.

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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Figures

Figure 1.
Figure 1.
Number of entries in Mendelian Inheritance in Man.
Figure 2.
Figure 2.
OMIM® statistics.
See this image and copyright information in PMC

References

    1. McKusick VA. On the X Chromosome of Man. Quart. Rev. Biol. 1962;37:69–175. - PubMed
    1. McKusick VA. Mendelian Inheritance in Man, A Catolog of Autosomal Dominant, Autosomal Recessive, and X-linked Phenotypes. 1st edn. Baltimore, MD: Johns Hopkins University Press; 1966.
    1. McKusick VA. Mendelian Inheritance in Man, A Catolog of Human Genes and Genetic Disorders. 12th edn. Baltimore, MD: Johns Hopkins University Press; 1998.
    1. Hamosh A, Scott AF, Amberger JS, Bocchini CA, McKusick VA. Online Mendelian Inheritance in Man (OMIM®), a knowledgebase of human genes and genetic disorders. Nucleic Acids Res. 2005;33:514–517. - PMC - PubMed

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