Everything about Omim totally explained
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.
Versions
It is available as a book named after the project, and it's 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 project Education.
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 for example,
Pelizaeus-Merzbacher disease [MIM*169500] is a well-established, autosomal, dominant, mendelian disorder.
Further Information
Get more info on 'Omim'.
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