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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

Iemolo Francesco et al., De novo mutation in a male patient with Fabry disease: a case report. BMC Research Notes (2014) doi:10.1186/1756-0500-7-11

Ortolano Saida et al., Loss of GABAergic cortical neurons underlies the neuropathology of Lafora disease. Molecular Brain (2014) doi:10.1186/1756-6606-7-7

Noreau Anne et al., Exome sequencing revealed PMM2 gene mutations in a French-Canadian family with congenital atrophy of the cerebellum. Cerebellum Ataxias (2014) doi:10.1186/2053-8871-1-8

Moreland Travis R et al., A customized Web portal for the genome of the ctenophore Mnemiopsis leidyi Multicellular invertebrate genomics. BMC Genomics (2014) doi:10.1186/1471-2164-15-316

Xu Rong et al., dRiskKB: a large-scale disease-disease risk relationship knowledge base constructed from biomedical text Knowledge-based analysis. BMC Bioinformatics (2014) doi:10.1186/1471-2105-15-105

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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