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  McKusick, seated, assigns a unique ID number to each disorder and genetic variant to prevent confusion and unify the field.

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  2002

  Ada Hamosh becomes OMIM’s scientific director. “Each entry is carefully annotated and linked to other relevant resources: genome information for researchers, medical information for physicians and clinical trials for patients,” she says.

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  2015

  OMIM was accessed by 2.9 million users from every country in the world (except North Korea and the western Sahara, which don’t have their own Internet access).

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  EARLY 1960s

  Victor McKusick, founding father of medical genetics, begins meticulous handwritten catalog in his little brown notebook of Mendelian traits and disorders. He and a small editorial staff ultimately convert 1,487 notes onto computer tape for publication.

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  LOOKING AHEAD:

  Though there are about 21,000 genes in the human genome, less than 3,600 have been linked to a trait so far.

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  1995

  OMIM developed for World Wide Web by the National Center for Biotechnology Information.

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  1960s

  First book edition of Mendelian Inheritance in Man is published in 1966. Further editions, adding thousands of new entries, were published every two to three years, totaling 12 editions in all by 1998.

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  TODAY

  There are over 23,000 entries describing more than 15,000 genes and 8,000 phenotypes. Each month, OMIM (OMIM.org) updates about 500 entries and creates 50 new ones.

  

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  1980s

  The online version, OMIM, is created in a collaboration between the National Library of Medicine and the William H. Welch Medical Library at Johns Hopkins in 1985. Made available on Internet in 1987.

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Victor McKusick ’46, the father of medical genetics, never went anywhere without a little brown notebook in his pocket, where he captured every interesting observation he came across.

Likely it was one of those notes that became the first entry in Mendelian Inheritance in Man, first published 50 years ago. Today it has evolved into Online Mendelian Inheritance in Man (OMIM), a vast online resource updated daily and used all over the world—a must-have for all medical geneticists, particularly because most of their patients have rare diseases.

As a compilation of what the whole field knows—McKusick referred to it as a “knowledge base,” not a “database”—“it catalyzes the flow of new information from basic scientists to medical geneticists and back again, which speeds our ability to help patients,” says David Valle, director of the Institute of Genetic Medicine at Johns Hopkins.