Mendelian Inheritance in Man

From Wikipedia, the free encyclopedia

The Mendelian Inheritance in Man project 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.

1 Versions
2 Collection process
3 The MIM code
4 References
5 See also
6 External link

[edit] Versions

It is available as a book named after the project, and it is currently in its 12th edition. The online version is called Online Mendelian Inheritance in Man™ (OMIM™), which can be accessed with the Entrez database searcher of the National Library of Medicine.

[edit] 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

[edit] 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 2 or more genes) as appropriate e.g., Pelizaeus-Merzbacher disease [MIM*169500] is a well-established, autosomal, dominant, mendelian disorder.

First Digit	Range of MIM codes	Method of inheritance
1	100000-199999	Autosomal dominant loci or phenotypes (created before May 15, 1994)
2	200000-299999	Autosomal recessive 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)

[edit] 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.