Online Mendelian Inheritance in Man (OMIM)

Ada Hamosh, Alan F. Scott, Joanna Amberger, David Valle, Victor A. McKusick

Research output: Contribution to journalArticle

Abstract

Online Mendelian Inheritance In Man (OMIM) is a public database of bibliographic information about human genes and genetic disorders. Begun by Dr. Victor McKusick as the authoritative reference Mendelian Inheritance in Man, it is now distributed electronically by the National Center for Biotechnology Information (NCBI). Material in OMIM is derived from the biomedical literature and is written by Dr. McKusick and his colleagues at Johns Hopkins University and elsewhere. Each OMIM entry has a full text summary of a genetic phenotype and/or gene and has copious links to other genetic resources such as DNA and protein sequence, PubMed references, mutation databases, approved gene nomenclature, and more. In addition, NCBI's neighboring feature allows users to identify related articles from PubMed selected on the basis of key words in the OMIM entry. Through its many features, OMIM is increasingly becoming a major gateway for clinicians, students, and basic researchers to the ever-growing literature and resources of human genetics.

Original languageEnglish (US)
Pages (from-to)57-61
Number of pages5
JournalHuman mutation
Volume15
Issue number1
DOIs
StatePublished - Jan 19 2000

Keywords

  • Central database
  • Clinical genetics
  • Electronic publication
  • MDI
  • MIM
  • Medical genetics
  • Mutation database
  • OMIM

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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