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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[]
The information in this database is collected and processed 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 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.
First Digit | Range of MIM codes | Method of inheritance |
1 | 100000-199999 | Autosomal loci or phenotypes (created before May 15, 1994) |
2 | 200000-299999 | Autosomal loci or phenotypes (created before May 15, 1994) |
3 | 300000-399999 | X-linked loci or phenotypes |
4 | 400000-499999 | Y-linked loci or phenotypes |
5 | 500000-599999 | Mitochondrial loci or phenotypes |
6 | 600000- | 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.[6]
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[]
- Table from the OMIM FAQ
- McKusick VA. Mendelian Inheritance in Man; A Catalog of Human Genes and Genetic Disorders. Baltimore, MD: The Johns Hopkins University Press, 1998. ISBN 0-8018-5742-2.
External link[]
- Online Mendelian Inheritance in Man (to search OMIM)
Databases supported by Bioinformatic Harvester |
UniProt | SOURCE | SMART | SOSUI | PSORT | HomoloGene | GFP-cDNA | IPI | OMIM NCBI-BLAST | Genome-Browser | Ensembl | RZPD | STRING | iHOP | Entrez |
This page uses Creative Commons Licensed content from Wikipedia (view authors). |
- ↑ 1.0 1.1 PMID 15608251 (PMID 15608251)
Citation will be completed automatically in a few minutes. Jump the queue or expand by hand - ↑ National Center for Biotechnology Information. URL accessed on 2011-04-20.
- ↑ 3.0 3.1 OMIM Help. URL accessed on 2011-04-20.
- ↑ McKusick, VA (1998). Mendelian Inheritance in Man; A Catalog of Human Genes and Genetic Disorders, Baltimore, Maryland: Johns Hopkins University Press.
- ↑ PMID 8423603 (PMID 8423603)
Citation will be completed automatically in a few minutes. Jump the queue or expand by hand - ↑ PMID 8592332 (PMID 8592332)
Citation will be completed automatically in a few minutes. Jump the queue or expand by hand