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

A Hamosh, AF Scott, JS Amberger… - Nucleic acids …, 2005 - academic.oup.com
A Hamosh, AF Scott, JS Amberger, CA Bocchini, VA McKusick
Nucleic acids research, 2005academic.oup.com
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 …
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.
Oxford University Press