Useful Tools in Immunology: OMIM.org

The Online Mendelian Inheritance in Man website, or OMIM, is a publicly available catalog of over 15,000 human genes and all known genetic disorders updated daily by the McKusick-Nathans Institute of Genetic Medicine at Johns Hopkins University.

Intended for physician and research use, OMIM is a searchable index of clinical features, phenotypes, genes, and more.

Number of entries in OMIM. Statistics current as of April 16, 2019.

OMIM was inspired by Dr. Victor A. McKusick’s catalog of mendelian traits and disorders, detailed in 12 editions of Mendelian Inheritance in Man dating back to the 1960s. The database was brought online through collaborative efforts between the National Library of Medicine, the William H. Welch Medical Library at Johns Hopkins University, and NCBI.

I always turn to OMIM when I encounter a protein or receptor gene that I’m not familiar with or that I need more information on. With OMIM, I can learn the other names for the same protein or gene, the gene function, and the variants of interest. Read on to learn how you might find the OMIM database useful.

3 Ways to Use OMIM.org

1. Basic Search

Type any term into the search bar to find the most relevant results. To narrow your search, consider using various search operators.

Depending on the result type, you may find detailed information related to:

  • Cytogenetic location
  • Genomic coordinates
  • Gene-phenotype relationships
  • Clinical synopsis
  • PheneGene graphics
  • Cloning and expression
  • Clinical features
  • Inheritance
  • Diagnosis
  • Gene structure
  • Gene function
  • Mapping
  • Cytogenetics
  • Molecular genetics
  • Genotype/phenotype correlations
  • Pathogenesis
  • Population genetics
  • History
  • Animal models
  • References

2. Advanced Search

The advanced search feature will help you drill down to the most specific results. Sort results by relevance, date updated, or date created; specify the number of entries displayed on each results page; limit your search to certain areas of the results, such as title; select chromosomes of interest; specify date ranges; and choose from other filters.

Clinical Synopsis Advanced Search

The clinical synopsis advanced search allows you to only view results that contain certain features, such as inheritance, growth, head and neck, cardiovascular, and many others.

Gene Map Advanced Search

The gene map advanced search helps you search the database by genomic region, cyto location band, or chromosome.

3. MIMmatch

Sign up for the MIMmatch feature to follow specific entries, genes, or diseases of interest so you can keep informed of any updates and find researchers who share the same interests.

Questions About OMIM?

Visit the OMIM help center for additional resources and tips, and please consider donating to support their amazing work. We hope you find the OMIM database a useful tool for immunology research!

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