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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

Tosetto Enrica et al., Complexity of the 5′UTR region of the CLCN5 gene: eleven 5′UTR ends are differentially expressed in the human kidney Functional and structural genomics. BMC Medical Genomics (2014) doi:10.1186/1755-8794-7-41

Pepe Guglielmina et al., Identification of fibrillin 1 gene mutations in patients with bicuspid aortic valve (BAV) without Marfan syndrome Genetic epidemiology and genetic associations. BMC Medical Genetics (2014) doi:10.1186/1471-2350-15-23

Pons Linda et al., ZEB2, a new candidate gene for asplenia. Orphanet Journal of Rare Diseases (2014) doi:10.1186/1750-1172-9-2

Gagliardi Lucia et al., A case of Aromatase deficiency due to a novel CYP19A1 mutation Pituitary Axis Disorders. BMC Endocrine Disorders (2014) doi:10.1186/1472-6823-14-16

Anderson Alison et al., Twenty years of surveillance in Rett syndrome: what does this tell us?. Orphanet Journal of Rare Diseases (2014) doi:10.1186/1750-1172-9-87

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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