Mendelian Inheritance in Man
Encyclopedia
Online Mendelian Inheritance in Man (OMIM) is a database
that catalogues all the known disease
s 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. OMIM is one of the databases housed in the U.S. National Center for Biotechnology Information
(NCBI) and included in its search menus.
version, OMIM, has been available since 1987, moved to the world wide web by NCBI in 1995, and in 2004 contained more than 15,000 records.
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 database has been used as a resource for locating literature relevant to inherited conditions.
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.
Range of MIM codes: Method of inheritance
These codes have been used in the medical literature to provide a unified index to genetic diseases.
Database
A database is an organized collection of data for one or more purposes, usually in digital form. The data are typically organized to model relevant aspects of reality , in a way that supports processes requiring this information...
that catalogues all the known disease
Disease
A disease is an abnormal condition affecting the body of an organism. It is often construed to be a medical condition associated with specific symptoms and signs. It may be caused by external factors, such as infectious disease, or it may be caused by internal dysfunctions, such as autoimmune...
s with a genetic component
Genetic disorder
A genetic disorder is an illness caused by abnormalities in genes or chromosomes, especially a condition that is present from before birth. Most genetic disorders are quite rare and affect one person in every several thousands or millions....
, and—when possible—links them to the relevant genes
Gênes
Gênes is the name of a département of the First French Empire in present Italy, named after the city of Genoa. It was formed in 1805, when Napoleon Bonaparte occupied the Republic of Genoa. Its capital was Genoa, and it was divided in the arrondissements of Genoa, Bobbio, Novi Ligure, Tortona and...
in the human genome
Human genome
The human genome is the genome of Homo sapiens, which is stored on 23 chromosome pairs plus the small mitochondrial DNA. 22 of the 23 chromosomes are autosomal chromosome pairs, while the remaining pair is sex-determining...
and provides references for further research and tools for genomic analysis of a catalogued gene. OMIM is one of the databases housed in the U.S. National Center for Biotechnology Information
National Center for Biotechnology Information
The National Center for Biotechnology Information is part of the United States National Library of Medicine , a branch of the National Institutes of Health. The NCBI is located in Bethesda, Maryland and was founded in 1988 through legislation sponsored by Senator Claude Pepper...
(NCBI) and included in its search menus.
Versions
Mendelian Inheritance in Man was started in the early 1960s and is available as a book currently in its 12th edition. The onlineONLINE
ONLINE is a magazine for information systems first published in 1977. The publisher Online, Inc. was founded the year before. In May 2002, Information Today, Inc. acquired the assets of Online Inc....
version, OMIM, has been available since 1987, moved to the world wide web by NCBI in 1995, and in 2004 contained more than 15,000 records.
Collection process and use
The information in OMIM was collected and processed from its inception under the leadership of Dr. Victor A. McKusickVictor A. McKusick
Victor Almon McKusick , internist and medical geneticist, was University Professor of Medical Genetics and Professor of Medicine at the Johns Hopkins Hospital, Baltimore, MD, USA...
at Johns Hopkins University
Johns Hopkins University
The Johns Hopkins University, commonly referred to as Johns Hopkins, JHU, or simply Hopkins, is a private research university based in Baltimore, Maryland, United States...
, assisted by a team of science
Science
Science is a systematic enterprise that builds and organizes knowledge in the form of testable explanations and predictions about the universe...
writers and editors. Relevant articles are identified, discussed and written up in the relevant entries in the MIM database.
The database has been used as a resource for locating literature relevant to inherited conditions.
The MIM code
Every disease and geneGene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
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
Pelizaeus-Merzbacher disease
Pelizaeus–Merzbacher disease is a rare central nervous system disorder in which coordination, motor abilities, and intellectual function are delayed to variable extents.-Classification:...
[MIM #312080] is an X-linked recessive disorder.
Range of MIM codes: Method of inheritance
- 100000–299999: Autosomal lociLocus (genetics)In the fields of genetics and genetic computation, a locus is the specific location of a gene or DNA sequence on a chromosome. A variant of the DNA sequence at a given locus is called an allele. The ordered list of loci known for a particular genome is called a genetic map...
or phenotypes (created before May 15, 1994) - 300000–399999: X-linked lociLocus (genetics)In the fields of genetics and genetic computation, a locus is the specific location of a gene or DNA sequence on a chromosome. A variant of the DNA sequence at a given locus is called an allele. The ordered list of loci known for a particular genome is called a genetic map...
or phenotypes - 400000–499999: Y-linked lociLocus (genetics)In the fields of genetics and genetic computation, a locus is the specific location of a gene or DNA sequence on a chromosome. A variant of the DNA sequence at a given locus is called an allele. The ordered list of loci known for a particular genome is called a genetic map...
or phenotypes - 500000–599999: Mitochondrial lociLocus (genetics)In the fields of genetics and genetic computation, a locus is the specific location of a gene or DNA sequence on a chromosome. A variant of the DNA sequence at a given locus is called an allele. The ordered list of loci known for a particular genome is called a genetic map...
or phenotypes - 600000–above : Autosomal lociLocus (genetics)In the fields of genetics and genetic computation, a locus is the specific location of a gene or DNA sequence on a chromosome. A variant of the DNA sequence at a given locus is called an allele. The ordered list of loci known for a particular genome is called a genetic map...
or phenotypes (created after May 15, 1994)
These codes have been used in the medical literature to provide a unified index to genetic diseases.
See also
- Comparative Toxicogenomics DatabaseComparative Toxicogenomics DatabaseThe Comparative Toxicogenomics Database is a public website and research tool that curates scientific data describing relationships between chemicals, genes, and human diseases....
, a database that integrates chemicals and genes with human diseases, including OMIM data. - DECIPHERDECIPHERDECIPHER is a web-based resource and database of array comparative genomic hybridization data from analysis of patient DNA. It documents submicroscopic chromosome abnormalities, including microdeletions and duplications, from over 6000 patients and maps them to the human genome using the Ensembl...
, a database of chromosomal imbalance and associated phenotype in humans, using EnsemblEnsemblEnsembl is a joint scientific project between the European Bioinformatics Institute and the Wellcome Trust Sanger Institute, which was launched in 1999 in response to the imminent completion of the Human Genome Project...
resources. - Medical classificationMedical classificationMedical classification, or medical coding, is the process of transforming descriptions of medical diagnoses and procedures into universal medical code numbers...
- Mendelian inheritanceMendelian inheritanceMendelian inheritance is a scientific description of how hereditary characteristics are passed from parent organisms to their offspring; it underlies much of genetics...
- Online Mendelian Inheritance in AnimalsOnline Mendelian Inheritance in AnimalsOnline Mendelian Inheritance in Animals is an online database of genes, inherited disorders and traits in more than 135 animal species. It is modelled on, and is complementary to, Online Mendelian Inheritance in Man...