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: [email protected] Am. J. Hum. Genet. 2007;80:588–604. 2007 by The American Society of Human Genetics. All rights reserved. 0002-9297/2007/8004-0003$15.00 DOI: 10.1086/514346 Last year marked the 40th anniversary of the publication of the first print edition of Mendelian Inheritance in Man (MIM). This seems an appropriate juncture at which to review its origins, evolution, and present status, including and particularly those of its online version, OMIM (Online Mendelian Inheritance in Man). This is an opportunity, at the same time, to review in brief the rapid progress in an important part of medical genetics and genomics, as chronicled in MIM/OMIM over these 40 years, and to contemplate the future challenges of OMIM.