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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

Xu Wei et al., Genome-wide association study of bipolar disorder in Canadian and UK populations corroborates disease loci including SYNE1 and CSMD1 Genetic epidemiology and genetic associations. BMC Medical Genetics (2014) doi:10.1186/1471-2350-15-2

Velasco Guillaume et al., Germline genes hypomethylation and expression define a molecular signature in peripheral blood of ICF patients: implications for diagnosis and etiology. Orphanet Journal of Rare Diseases (2014) doi:10.1186/1750-1172-9-56

Zhao Ying et al., Clinical features and gene mutational spectrum of CDKL5 -related diseases in a cohort of Chinese patients Clinical-Molecular Genetics and Cytogenetics. BMC Medical Genetics (2014) doi:10.1186/1471-2350-15-24

Janssen F Sarah et al., Gene expression-based comparison of the human secretory neuroepithelia of the brain choroid plexus and the ocular ciliary body: potential implications for glaucoma. Fluids and Barriers of the CNS (2014) doi:10.1186/2045-8118-11-2

Vu Quang Van et al., Clinical and mutational features of Vietnamese children with X-linked agammaglobulinemia Genetics and congenital disorders. BMC Pediatrics (2014) doi:10.1186/1471-2431-14-129

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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