Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders

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

doi:10.1093/nar/gki033

Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders

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

School of Medicine

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

1668 Scopus citations

Abstract

Online Mendelian Inheritance in Man (OMIM™) is a comprehensive, authoritative and timely knowledgebase of human genes and genetic disorders compiled to support human genetics research and education and the practice of clinical genetics. Started by Dr Victor A. McKusick as the definitive reference Mendelian Inheritance in Man, OMIM (http://www.ncbi.nlm.nih.gov/omim/) is now distributed electronically by the National Center for Biotechnology Information, where it is integrated with the Entrez suite of databases. Derived from the biomedical literature, OMIM is written and edited at Johns Hopkins University with input from scientists and physicians around the world. Each OMIM entry has a full-text summary of a genetically determined phenotype and/or gene and has numerous links to other genetic databases such as DNA and protein sequence, PubMed references, general and locus-specific mutation databases, HUGO nomenclature, MapViewer, GeneTests, patient support groups and many others. OMIM is an easy and straightforward portal to the burgeoning information in human genetics.

Original language	English (US)
Pages (from-to)	D514-D517
Journal	Nucleic acids research
Volume	33
Issue number	DATABASE ISS.
DOIs	https://doi.org/10.1093/nar/gki033
State	Published - Jan 1 2005

ASJC Scopus subject areas

Genetics

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abstract = "Online Mendelian Inheritance in Man (OMIM{\texttrademark}) is a comprehensive, authoritative and timely knowledgebase of human genes and genetic disorders compiled to support human genetics research and education and the practice of clinical genetics. Started by Dr Victor A. McKusick as the definitive reference Mendelian Inheritance in Man, OMIM (http://www.ncbi.nlm.nih.gov/omim/) is now distributed electronically by the National Center for Biotechnology Information, where it is integrated with the Entrez suite of databases. Derived from the biomedical literature, OMIM is written and edited at Johns Hopkins University with input from scientists and physicians around the world. Each OMIM entry has a full-text summary of a genetically determined phenotype and/or gene and has numerous links to other genetic databases such as DNA and protein sequence, PubMed references, general and locus-specific mutation databases, HUGO nomenclature, MapViewer, GeneTests, patient support groups and many others. OMIM is an easy and straightforward portal to the burgeoning information in human genetics.",

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note = "Funding Information: Funding is provided by the National Human Genome Research Institute (NHGRI) through a contract administered by the NLM (N01-LM-43504). Maintenance of OMIM is also supported by licensing fees, and the terms of these arrangements are being managed by the Johns Hopkins University in accordance with its conflict of interest policies.",

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Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders

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