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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

López-Lera Alberto et al., Expression of the SERPING1 gene is not regulated by promoter hypermethylation in peripheral blood mononuclear cells from patients with hereditary angioedema due to C1-inhibitor deficiency. Orphanet Journal of Rare Diseases (2014) doi:10.1186/s13023-014-0103-y

McRae M Kathryn et al., Signatures of selection in sheep bred for resistance or susceptibility to gastrointestinal nematodes Non-human and non-rodent vertebrate genomics. BMC Genomics (2014) doi:10.1186/1471-2164-15-637

Ellis JI Peter et al., Thrifty metabolic programming in rats is induced by both maternal undernutrition and postnatal leptin treatment, but masked in the presence of both: implications for models of developmental programming Transcriptomic methods. BMC Genomics (2014) doi:10.1186/1471-2164-15-49

Al-Kindi Adila et al., A novel mutation in DDR2 causing spondylo-meta-epiphyseal dysplasia with short limbs and abnormal calcifications (SMED-SL) results in defective intra-cellular trafficking Clinical-Molecular Genetics and Cytogenetics. BMC Medical Genetics (2014) doi:10.1186/1471-2350-15-42

Chénier Sébastien et al., CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems. Journal of Neurodevelopmental Disorders (2014) doi:10.1186/1866-1955-6-9

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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