Last expanded printed edition: 12th edition, 3 vols., 1998.

"Dr Victor A. McKusick wrote an article in 1962 for the Quarterly Review of Biology titled ‘On the X Chromosome of Man’ (1). At that time, X-linkage had been established for about 60 traits in man and a genetic map of the X chromosome was presented. Four years later, with the addition of dominant and recessive traits, Dr McKusick published a book, Mendelian Inheritance in Man: Catalogs of Autosomal Dominant, Autosomal Recessive and X-linked Phenotypes (MIM) (2). The first edition had 1400 entries and no mapped autosomal loci. Each catalogue contained summaries of genetic phenotypes reported in the biomedical literature, which were organized into numbered entries with descriptive synopses and references. With the addition of descriptions of genes, the focus of MIM became the relationship between phenotypes and genes. Over the years, catalogues for Y-linked and mitochondrial phenotypes and genes were added and by the 12th edition, the subtitle had been changed to ‘A Catalog of Human Genes and Genetic Disorders’(3). Today the online version of MIM, OMIM®, contains 18 961 entries (Figure 1). It continues with the same basic organization but has grown to include complex traits and descriptions of the consequences of gene copy number variation and recurrent deletions/microdeletions and duplications/microduplications...." (McKusick's Online Mendelian Inheritance in Man (OMIM®), Joanna Amberger, Carol A. Bocchini, Alan F. Scott, and Ada Hamos [2009])