Online Mendelian Inheritance in Man

online catalog of human genes, with a particular focus on the gene-phenotype relationship

Online Mendelian Inheritance in Man (OMIM) is a database that keeps track of all known human genes.

It list those which cause genetic disorders, and those which simply cause traits. There are about 8,000 entries for genes, and 15,000 entries for phenotypes, which are (roughly) the feature(s) caused by a person's genes.[1]

When possible it links diseases to specific genes. It provides a useful tool for further research.[2] OMIM is one of the databases housed in the U.S. National Center for Biotechnology Information (NCBI). People search it using the NCBI search menus.[3]

Versions change

Mendelian Inheritance in Man was started as books in the early 1960s.[4] The 12th edition is the most recent book.[5] The online version, OMIM, has been available since 1987.[6] NCBI move it to the World Wide Web in 1995.[4] By 2004, OMIM contained more than 15,000 records.[2]

The MIM code change

Every disease and gene is given a six digit number. The first digit in each number tells how the gene or disease is inherited (passed from one generation to the next).

If the initial digit is 1, the trait is autosomal dominant; if 2, autosomal recessive; if 3, X-linked. Each trait defined in this dictionary has a MIM number, the number from the 12th edition of MIM. The MIM number is printed in square brackets with or without an asterisk (asterisks indicate that the mode of inheritance is known; a number symbol (#) before an entry number means that the phenotype can be caused by mutation in any of two or more genes) as appropriate. For example, Pelizaeus-Merzbacher disease [MIM #312080] is an X-linked recessive disorder.

Range of MIM codes: method of inheritance [7]

  • 100000–299999: Autosomal loci or phenotypes (created before May 15, 1994)
  • 300000–399999: X-linked loci or phenotypes
  • 400000–499999: Y-linked loci or phenotypes
  • 500000–599999: Mitochondrial loci or phenotypes
  • 600000–above : Autosomal loci or phenotypes (created after May 15, 1994)

These codes have been used in the medical literature to provide a unified index to genetic diseases.[8]

References change

  1. "OMIM Entry Statistics". Online Mendelian Inheritance in Man. Baltimore, MD: McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University. 2015. Retrieved 23 July 2015.
  2. 2.0 2.1 Hamosh A.; Scott A.; Amberger J.; Bocchini C.; McKusick V. (2004). "Online Mendelian Inheritance in Man (OMIM): a knowledgebase of human genes and genetic disorders". Nucleic Acids Research. 33 (Database issue): D514–D517. doi:10.1093/nar/gki033. PMC 539987. PMID 15608251.
  3. "National Center for Biotechnology Information". Retrieved 2011-04-20.
  4. 4.0 4.1 "OMIM Help". Retrieved 2011-04-20.
  5. McKusick, VA (1998). Mendelian inheritance in man: a catalog of human genes and genetic disorders. Baltimore, Maryland: Johns Hopkins University Press. ISBN 978-0-8018-5742-3.
  6. McKusick V.; Amberger J. (1993). "The morbid anatomy of the human genome: chromosomal location of mutations causing disease". Journal of Medical Genetics. 30 (1): 1–26. doi:10.1136/jmg.30.1.1. PMC 1016229. PMID 8423603.
  7. "OMIM Help". Retrieved 2011-04-18.
  8. Tolmie J.; et al. (1995). "The Aicardi-Goutières syndrome (familial, early onset encephalopathy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis)". Journal of Medical Genetics. 32 (11): 881–884. doi:10.1136/jmg.32.11.881. PMC 1051740. PMID 8592332.

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