McKusick's Online Mendelian Inheritance in Man (OMIM®)
نویسندگان
چکیده
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.
منابع مشابه
PERSPECTIVES IN HUMAN GENETICS Mendelian Inheritance in Man and Its Online Version, OMIM
From the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore Received January 31, 2007; accepted for publication February 15, 2007; electronically published March 8, 2007. Address for correspondence and reprints: Dr. Victor A. McKusick, 1007 Blalock Building, Johns Hopkins Hospital, 600 N. Wolfe Street, Baltimore, MD 21287-4922. E-mail: mckusic...
متن کاملOnline Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders
Online Mendelian Inheritance in Man (OMIM) is a comprehensive, authoritative and timely knowledgebase of human genes and genetic disorders compiled to support research and education in human genomics and the practice of clinical genetics. Started by Dr Victor A. McKusick as the definitive reference Mendelian Inheritance in Man, OMIM (www.ncbi.nlm.nih.gov/omim) is now distributed electronically ...
متن کاملChapter 7: Online Mendelian Inheritance in Man (OMIM): A Directory of Human Genes and Genetic Disorders
Online Mendelian Inheritance in Man (OMIMTM) is a timely, authoritative compendium of bibliographic material and observations on inherited disorders and human genes. It is the continuously updated electronic version of Mendelian Inheritance in Man (MIM). MIM was last published in 1998 (1) and is authored and edited by Dr. Victor A. McKusick and a team of science writers, editors, scientists, an...
متن کاملMendelian Inheritance in Man and its online version, OMIM.
From the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore Received January 31, 2007; accepted for publication February 15, 2007; electronically published March 8, 2007. Address for correspondence and reprints: Dr. Victor A. McKusick, 1007 Blalock Building, Johns Hopkins Hospital, 600 N. Wolfe Street, Baltimore, MD 21287-4922. E-mail: mckusic...
متن کاملOMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders
Online Mendelian Inheritance in Man, OMIM(®), is a comprehensive, authoritative and timely research resource of curated descriptions of human genes and phenotypes and the relationships between them. The new official website for OMIM, OMIM.org (http://omim.org), was launched in January 2011. OMIM is based on the published peer-reviewed biomedical literature and is used by overlapping and diverse...
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