Online Mendelian Inheritance in Man

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Online Mendelian Inheritance in Man (OMIM) is a database in which human genes and their mutations are recorded. Hereditary diseases are very easy to identify. The database also contains information on clinical symptoms, inheritance, molecular genetics and scientific publications on the subject. The website allows simple search for terms, but also combined searches with Boolean operators AND, OR and NOT, multi-level combined search requests and the "geographical" specification of the chromosome regions to be searched. An index is also available. Like the PubMed database, OMIM belongs  to the National Center for Biotechnology Information (NCBI) in the USA .

background

Mendelian Inheritance in Man was first published in 1966 as a book catalog by Victor McKusick , who always remained connected to the project. - Translation of the name: Human inheritance according to Mendel's rules .

OMIM is curated by Johns Hopkins University and is made available free of charge through the National Center for Biotechnology Information. Since 2016, a voluntary call for donations has been activated when using the database to cover personnel costs.

Each OMIM entry is generated by scientists and doctors and consists of a summary of genes and genetically determined phenotypes with the associated links to other databases such as B. Entrez Nucleotide , Entrez Protein , Unigene , etc.

In February 2019, the loci of around 15,000 defects were mapped for almost 25,000 recorded genetic defects, since a complete correlation with the genotype is still not possible.

literature

  • Victor Almon McKusick : Mendelian inheritance in man: a catalog of human genes and genetic disorders . 12th edition. Johns Hopkins University Press, Baltimore MD 1998, ISBN 0-8018-5742-2 .
  • Ada Hamosh, Alan F. Scott, Joanna S. Amberger, Carol A. Bocchini, Victor A. McKusick: Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders . In: Nucleic acids research . tape 33 , January 1, 2005, pp. D514-517 , doi : 10.1093 / nar / gki033 , PMID 15608251 .

Web links

Individual evidence

  1. ↑ US National Library of Medicine. PMID 18842627
  2. ↑ OMIM Entry Statistics