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]
Contents |
Versions [edit]
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 [edit]
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 [edit]
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 [edit]
- 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 [edit]
- ^ 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.
- ^ "National Center for Biotechnology Information". Retrieved 2011-04-20.
- ^ a b c "OMIM Help". Retrieved 2011-04-20.
- ^ 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.
- ^ 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.
- ^ 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.
- ^ 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.
External links [edit]
Here you can share your comments or contribute with more information, content, resources or links about this topic.