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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 and provides references for further research and tools for genomic analysis of a catalogued gene.

Contents

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 and is part of the NCBI Education project.

Collection process

The information in this database was 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*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)

See also

References

  • Table from the OMIM FAQ
  • McKusick, VA (1998). Mendelian Inheritance in Man; A Catalog of Human Genes and Genetic Disorders. Baltimore, Maryland: The Johns Hopkins University Press. ISBN 0-8018-5742-2.  
  • Hamosh, A, Scott, AF, Amberger, JS, Bocchini, CA, McKusick, VA. (2005) Online Mendelian inheritance in man (OMIM), a knowledgebase of human genes and genetic disorders. Nucleic Acids Research 33, D514-D517

External links

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