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

Joanna Amberger, Carol A. Bocchini, Alan F Scott, Ada Hamosh

Research output: Contribution to journalArticle

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.

Original languageEnglish (US)
JournalNucleic Acids Research
Volume37
Issue numberSUPPL. 1
DOIs
StatePublished - 2009

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Genetic Databases
Genes
Phenotype
Knowledge Bases
Biotechnology
Mutation

ASJC Scopus subject areas

  • Genetics

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McKusick's Online Mendelian Inheritance in Man (OMIM®). / Amberger, Joanna; Bocchini, Carol A.; Scott, Alan F; Hamosh, Ada.

In: Nucleic Acids Research, Vol. 37, No. SUPPL. 1, 2009.

Research output: Contribution to journalArticle

Amberger, Joanna ; Bocchini, Carol A. ; Scott, Alan F ; Hamosh, Ada. / McKusick's Online Mendelian Inheritance in Man (OMIM®). In: Nucleic Acids Research. 2009 ; Vol. 37, No. SUPPL. 1.
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