Online Mendelian Inheritance in Man (OMIM) is a comprehensive, online database of human inherited disorders and their genetic basis. The database was developed by Victor A. McKusick and his colleagues at Johns Hopkins University and was first published in 1966 as a print catalog of genetic disorders. The catalog was later digitized and made available online and has since become a widely used resource for researchers and healthcare professionals interested in genetic disorders.

OMIM is organized as a catalog of entries, each of which corresponds to a specific inherited disorder or trait. Each entry includes detailed information about the disorder, including its clinical characteristics, genetic basis, and related research findings. The database also includes information about the genes and genomic regions associated with the disorder, as well as links to relevant research articles and other resources.

OMIM is a valuable resource for researchers and healthcare professionals interested in genetic disorders and is widely used in the fields of genetics, genomics, and medical genetics. It is maintained by the McKusick-Nathans Institute of Genetic Medicine at Johns Hopkins University.

OMIM Allied Resources

The Online Mendelian Inheritance in Man (OMIM) database includes a section called “Allied Resources,” which provides links to other resources related to the genetic basis of inherited disorders and traits.

Some examples of resources that may be included in the OMIM Allied Resources section include:

  1. GeneReviews: A comprehensive, peer-reviewed resource that provides in-depth information about the genetic basis of inherited disorders and the management of affected individuals.
  2. HGNC: The Human Gene Nomenclature Committee’s database of gene symbols and names, which provides standardized, approved symbols and names for genes.
  3. GeneCards: A database of gene-specific information, including function, structure, and related diseases.
  4. OMIM GeneTests: A directory of clinical and laboratory testing services for inherited disorders and traits.
  5. Orphanet: A database of information about rare diseases and orphan drugs, including information about diagnosis, management, and research.

To access the OMIM Allied Resources section, follow these steps:

  1. Go to the OMIM website (https://www.omim.org/).
  2. Click on the “Allied Resources” tab at the top of the page.
  3. The OMIM Allied Resources page will be displayed, showing a list of links to other resources related to inherited disorders and traits. You can click on a link to access the resource.

The OMIM Numbering System

The Online Mendelian Inheritance in Man (OMIM) database uses a numbering system to uniquely identify each entry in the database. The numbering system consists of a six-digit number followed by a hyphen and a single letter.

The first three digits of the number represent the chromosome on which the gene associated with the entry is located. For example, a number starting with 601 indicates that the gene is located on chromosome 1.

The next three digits represent the order in which the entry was added to the database. For example, an entry with the number 601123 was the 123rd entry added to the database for chromosome 1.

The letter at the end of the number indicates the type of entry. “A” is used for a gene or genomic region, “B” is used for a disorder or trait, and “C” is used for a cytogenetic location.

For example, the entry for the gene encoding the protein alpha-1-antitrypsin (AAT) has the OMIM number 107400. This number indicates that the gene is located on chromosome 14 (the first three digits are 107) and that it was the 400th entry added to the database for chromosome 14 (the next three digits are 400). The letter “A” at the end of the number indicates that it is a gene or genomic region.

Citing OMIM in the Literature

To cite entries from the Online Mendelian Inheritance in Man (OMIM) database in the literature, you can use the following format:

[OMIM #]: Gene or genomic region name. Online Mendelian Inheritance in Man (OMIM). Johns Hopkins University, Baltimore, MD. Available at: https://www.omim.org/entry/[OMIM #]. Accessed [date].

For example, to cite the OMIM entry for the gene encoding the protein alpha-1-antitrypsin (AAT), you could use the following citation:

107400: Alpha-1-antitrypsin. Online Mendelian Inheritance in Man (OMIM). Johns Hopkins University, Baltimore, MD. Available at: https://www.omim.org/entry/107400. Accessed January 1, 2021.

It’s important to include the OMIM number, as well as the name of the gene or genomic region, in the citation. Be sure to also include the date that you accessed the entry and the full URL for the OMIM website.

How to Search the OMIM Morbid Map

To search the OMIM morbid map, follow these steps:

  1. Go to the OMIM website (https://www.omim.org/).
  2. In the search box at the top of the page, enter the name of the disorder or trait you are interested in. You can also enter a gene symbol, gene name, or chromosomal location to search for entries related to a specific gene or genomic region.
  3. Click the “Search” button to perform the search.
  4. The search results will be displayed on a new page, showing a list of entries that match your search criteria. You can use the filters on the left side of the page to narrow down the results by category or other criteria.
  5. Click on an entry in the search results to view the full entry. The entry will include detailed information about the disorder or trait, including its clinical characteristics, genetic basis, and related research findings.
  6. Scroll down to the “Morbid Map” section of the entry to view a graphical representation of the genetic basis of the disorder or trait. The morbid map will show the chromosomal location of the genes associated with the disorder or trait, as well as any nearby genes and other features.
  7. You can use the links in the entry to access additional resources, such as research articles and other information about the disorder or trait.

Search the OMIM Gene Map

To search the OMIM gene map, follow these steps:

  1. Go to the OMIM website (https://www.omim.org/).
  2. In the search box at the top of the page, enter the name of the gene you are interested in. You can also enter a gene symbol or chromosomal location to search for entries related to a specific gene or genomic region.
  3. Click the “Search” button to perform the search.
  4. The search results will be displayed on a new page, showing a list of entries that match your search criteria. You can use the filters on the left side of the page to narrow down the results by category or other criteria.
  5. Click on an entry in the search results to view the full entry. The entry will include detailed information about the gene, including its function, structure, and related research findings.
  6. Scroll down to the “Gene Map” section of the entry to view a graphical representation of the gene’s location on the genome. The gene map will show the chromosomal location of the gene, as well as any nearby genes and other features.
  7. You can use the links in the entry to access additional resources, such as research articles and other information about the gene.

    Search the OMIM Database

    To search the OMIM database, follow these steps:

    1. Go to the OMIM website (https://www.omim.org/).
    2. In the search box at the top of the page, enter the name of the disorder or trait you are interested in. You can also enter a gene symbol, gene name, or chromosomal location to search for entries related to a specific gene or genomic region.
    3. Click the “Search” button to perform the search.
    4. The search results will be displayed on a new page, showing a list of entries that match your search criteria. You can use the filters on the left side of the page to narrow down the results by category or other criteria.
    5. Click on an entry in the search results to view the full entry. The entry will include detailed information about the disorder or trait, including its clinical characteristics, genetic basis, and related research findings.
    6. You can use the links in the entry to access additional resources, such as research articles and other information about the disorder or trait.

    Online Mendelian Inheritance in Man & Erectile Dysfunction

    The Online Mendelian Inheritance in Man (OMIM) database includes information about a number of inherited disorders and traits that may be related to erectile dysfunction (ED). ED is a common sexual health issue characterized by the inability to achieve or maintain an erection sufficient for sexual intercourse. It can be caused by a variety of factors, including physical, psychological, and emotional issues.

    Some examples of inherited disorders and traits that may be related to ED and that are included in OMIM include:

    1. KDM5D gene duplications: A study published in the journal PLOS ONE found that men with duplications of the KDM5D gene had a higher risk of ED compared to men without duplications of the gene. The KDM5D gene is involved in the regulation of steroid hormone levels in the body.
    2. Androgen insensitivity syndrome (AIS): AIS is a genetic disorder that affects the development and function of the male reproductive system. Men with AIS may have difficulty achieving or maintaining an erection due to reduced levels of testosterone, the male sex hormone.
    3. Kallmann syndrome: Kallmann syndrome is a genetic disorder that affects the development of the reproductive system, including the development of secondary sexual characteristics such as facial hair and genital development. Men with Kallmann syndrome may have reduced testosterone levels and may experience ED as a result.

    To find information about these and other inherited disorders and traits related to ED in OMIM, you can use the search function on the OMIM website to search for the specific disorder or trait by name or OMIM number.