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. 2021 Nov;185(11):3259-3265.
doi: 10.1002/ajmg.a.62407. Epub 2021 Jun 24.

Online Mendelian Inheritance in Man (OMIM®): Victor McKusick's magnum opus

Ada Hamosh  1 , Joanna S Amberger  1 , Carol Bocchini  1 , Alan F Scott  1 , Sonja A Rasmussen  2   3
Affiliations

Online Mendelian Inheritance in Man (OMIM®): Victor McKusick's magnum opus

Ada Hamosh et al. Am J Med Genet A. 2021 Nov.

Abstract

Victor McKusick's many contributions to medicine are legendary, but his magnum opus is Mendelian Inheritance in Man (MIM), his catalog of Mendelian phenotypes and their associated genes. The catalog, originally published in 1966 in book form, became available on the internet as Online Mendelian Inheritance in Man (OMIM®) in 1987. The first of 12 editions of MIM included 1486 entries; this number has increased to over 25,000 entries in OMIM as of April 2021, which demonstrates the growth of knowledge about Mendelian phenotypes and their genes through the years. OMIM now has over 20,000 unique users a day, including users from every country in the world. Many of the early decisions made by McKusick, such as to maintain MIM data in a computer-readable format, to separate phenotype entries from those for genes, and to give phenotypes and genes MIM numbers, have proved essential to the long-term utility and flexibility of his catalog. Based on his extensive knowledge of genetics and vision of its future in the field of medicine, he developed a framework for the capture and summary of information from the published literature on phenotypes and their associated genes; this catalog continues to serve as an indispensable resource to the genetics community.

Keywords: Mendelian Inheritance in Man; OMIM; gene-phenotype relationship; history of medicine; single-gene conditions.

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Conflict of interest statement

The authors have no relevant conflict of interest.

Figures

FIGURE 1
FIGURE 1
The pace of disease gene discovery as cataloged by the OMIM Morbid Map Scorecard. The current scorecard is available from https://omim.org/statistics/geneMap. As of May 22, 2021, there were over 6800 phenotypes with a known molecular basis and over 4400 genes with a phenotype‐causing mutation
FIGURE 2
FIGURE 2
Structure of OMIM.org.Genes and phenotypes have separate entries with associated targeted external links and attributes. Dashed lines indicate that not all genes have allelic variants, not all phenotypes are mapped, and mapped phenotypes are not necessarily part of a phenotypic series
FIGURE 3
FIGURE 3
(a/b): OMIM PheneGene graphics.Linear (a) and radial (b) graphics depicting the relationship between phenotypes associated with pathogenic variants in the MSX1 gene and groups of related phenotypes (phenotypic series), and their associated genes.These relationships are not hierarchical
See this image and copyright information in PMC

References

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