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Online Mendelian Inheritance in Man (OMIM): A database of human genes, genetic diseases and disorders

Tutorial and training materials by OpenHelix

Learn to use Online Mendelian Inheritance in Man, or OMIM, a catalog of human genes and genetic conditions. OMIM is a foundational resource in genomics and is valuable for clinicians and biomedical researchers. OMIM links and data are found at sites all around the bioinformatics sphere, but understanding the full scope of OMIM's data and resources enable the most comprehensive understanding of human phenotypes and disease. OMIM contains full-text summaries of information from the scientific literature, and provides extensive links to the literature resources and other genomic resource tools as well. Use OMIM as a comprehensive first stop to find important information and gene links for human Mendelian disorders.
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You'll learn:

  • ways to perform both simple and advanced searches
  • how to navigate and customize output displays to best serve your needs
  • methods to view OMIM data organized by either genes or disorders
  • where to find, and how to use additional features of the OMIM resource


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Recent BioMed Central research articles citing this resource

Bursztejn Anne-Claire et al., DNA copy number variations in drug reaction with eosinophilia and systemic symptoms (DRESS) identifying 2 new candidates genes 6th Drug Hypersensitivity Meeting (DHM 6) 6th Drug Hypersensitivity Meeting (DHM 6). Clinical and Translational Allergy (2014) doi:10.1186/2045-7022-4-S3-O11

Vergara A Ismael et al., Genome-wide variations in a natural isolate of the nematode Caenorhabditis elegans Comparative and evolutionary genomics. BMC Genomics (2014) doi:10.1186/1471-2164-15-255

Trakadis J Yannis et al., PhenoVar: a phenotype-driven approach in clinical genomics for the diagnosis of polymalformative syndromes I don apos;t know (editor will assign section). BMC Medical Genomics (2014) doi:10.1186/1755-8794-7-22

Kang Hyunjung et al., gsGator: an integrated web platform for cross-species gene set analysis Knowledge-based analysis. BMC Bioinformatics (2014) doi:10.1186/1471-2105-15-13

Bouchireb Karim et al., Fanconi syndrome and severe polyuria: an uncommon clinicobiological presentation of a Gitelman syndrome Genetics and congenital disorders. BMC Pediatrics (2014) doi:10.1186/1471-2431-14-201

More about the resource:

OMIM comes from the McKusick-Nathans Institute of Genetic Medicine at Johns Hopkins University. OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.


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Copyright 2009, OpenHelix, LLC.

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