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

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

doi:10.1093/nar/gkn665

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

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

School of Medicine

Research output: Contribution to journal › Article › peer-review

491 Scopus citations

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 language	English (US)
Pages (from-to)	D793-D796
Journal	Nucleic acids research
Volume	37
Issue number	SUPPL. 1
DOIs	https://doi.org/10.1093/nar/gkn665
State	Published - 2009

ASJC Scopus subject areas

Genetics

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10.1093/nar/gkn665

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

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