Mendelian Inheritance in Man

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Template:Primarysources The Mendelian Inheritance in Man project is a Wikipedia:database that catalogues all the known Wikipedia:diseases with a genetic component, and—when possible—links them to the relevant Wikipedia:genes in the Wikipedia:human genome and provides references for further research and tools for genomic analysis of a catalogued gene.

Versions

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

Collection process

The information in this Wikipedia:database was collected and processed under the leadership of Dr. Wikipedia:Victor A. McKusick at Wikipedia:Johns Hopkins University, assisted by a team of Wikipedia: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 Wikipedia: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 Wikipedia:autosomal dominant; if 2, Wikipedia:autosomal recessive; if 3, Wikipedia: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., Wikipedia: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 Wikipedia:Autosomal dominant loci or Wikipedia:phenotypes (created before May 15, 1994)
2 200000–299999 Wikipedia:Autosomal recessive loci or Wikipedia:phenotypes (created before May 15, 1994)
3 300000–399999 Wikipedia:X-linked loci or Wikipedia:phenotypes
4 400000–499999 Wikipedia:Y-linked loci or Wikipedia:phenotypes
5 500000–599999 Wikipedia:Mitochondrial loci or Wikipedia:phenotypes
6 600000– Wikipedia:Autosomal loci or Wikipedia:phenotypes (created after May 15, 1994)

See also

References

  • Table from the OMIM FAQ
  • Template:Cite book
  • 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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