Online Mendelian Inheritance in Man

Online Mendelian Inheritance in Man (OMIM) is a database that catalogues all the known diseases with a genetic component, and—when possible—links them to the relevant genes in the human genome and provides references for further research and tools for genomic analysis of a catalogued gene.^[1] OMIM is one of the databases housed in the U.S. National Center for Biotechnology Information (NCBI) and included in its search menus.^[2]

Versions

Mendelian Inheritance in Man was started in the early 1960s^[3] and is available as a book currently in its 12th edition.^[4] The online version, OMIM, has been available since 1987^[5], moved to the world wide web by NCBI in 1995,^[3] and in 2004 contained more than 15,000 records.^[1]

Collection process and use

The information in OMIM was collected and processed from its inception under the leadership of Dr. Victor A. McKusick at Johns Hopkins University, assisted by a team of science writers and editors. Relevant articles are identified, discussed and written up in the relevant entries in the MIM database.

The database has been used as a resource for locating literature relevant to inherited conditions.^[6]

The MIM code

Every disease and gene is assigned a six digit number of which the first number classifies the method of inheritance.

If the initial digit is 1, the trait is deemed autosomal dominant; if 2, autosomal recessive; if 3, X-linked. Wherever a trait defined in this dictionary has a MIM number, the number from the 12th edition of MIM, is given 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 e.g., Pelizaeus-Merzbacher disease [MIM #312080] is an X-linked recessive disorder.

Range of MIM codes: Method of inheritance^[3]

• 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.^[7]

See also

• Comparative Toxicogenomics Database, a database that integrates chemicals and genes with human diseases, including OMIM data.
• DECIPHER, a database of chromosomal imbalance and associated phenotype in humans, using Ensembl resources.
• Medical classification
• Mendelian inheritance
• Online Mendelian Inheritance in Animals

References

1. ^ ^{a b} 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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=539987.  edit
2. ^ "National Center for Biotechnology Information". http://www.ncbi.nlm.nih.gov/. Retrieved 2011-04-20. 
3. ^ ^{a b c} "OMIM Help". http://www.omim.org/help/about. Retrieved 2011-04-20. 
4. ^ McKusick, VA (1998). Mendelian Inheritance in Man; A Catalog of Human Genes and Genetic Disorders. Baltimore, Maryland: Johns Hopkins University Press. ISBN 0-8018-5742-2. 
5. ^ 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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1016229.  edit
6. ^ Gitomer, W.; Pak, C. (1996). "Recent advances in the biochemical and molecular biological basis of cystinuria". The Journal of urology 156 (6): 1907–1912. doi:10.1016/S0022-5347(01)65389-8. PMID 8911353.  edit
7. ^ Tolmie, J.; Shillito, P.; Hughes-Benzie, R.; Stephenson, J. (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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1051740.  edit

External links

• OMIM home page
• [1] - NCBI