Omim

Author:Prof. Dr. med. Peter Altmeyer

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Last updated on: 29.10.2020

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Synonym(s)

Online Mendelian Inheritance in Man

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DefinitionThis section has been translated automatically.

Acronym for "Online Mendelian Inheritance in Man" and abbreviation for the OMIM database, a catalogue of human genes and genetic diseases available online and developed for the "World Wide Web" (WWW).

General informationThis section has been translated automatically.

The OMIM database was set up by the human geneticist Dr. Victor A. McKusick of Johns Hopkins University in Baltimore (US state of Maryland) in the mid-1990s. Currently there are more than 18000 entries on genes and phenotypic expressions in OMIM, including > 12000 genes that are mapped exactly to their loci. More than 6,000 monogenic diseases, including hemochromatosis and antithrombin III deficiency, are associated with specific genes. The OMIM database also contains clinical descriptions and literature references.

LiteratureThis section has been translated automatically.

  1. McKusick VA (1998) Mendelian Inheritance in Man. A Catalog of Human Genes and Genetic Disorders, 12th ed. Johns Hopkins University Press, Baltimore, MD

Authors

Last updated on: 29.10.2020

Author: Prof. Dr. med. Peter Altmeyer