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

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

Research output: Contribution to journalArticlepeer-review

491 Scopus citations


McKusick's Online Mendelian Inheritance in Man (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)
Pages (from-to)D793-D796
JournalNucleic acids research
Issue numberSUPPL. 1
StatePublished - 2009

ASJC Scopus subject areas

  • Genetics


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