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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

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

Lieber S Daniel et al., Next generation sequencing with copy number variant detection expands the phenotypic spectrum of HSD17B4-deficiency Clinical-Molecular Genetics and Cytogenetics. BMC Medical Genetics (2014) doi:10.1186/1471-2350-15-30

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

Ortube Carolina Maria et al., Whole exome sequencing detects homozygosity for ABCA4 p.Arg602Trp missense mutation in a pediatric patient with rapidly progressive retinal dystrophy Clinical-Molecular Genetics and Cytogenetics. BMC Medical Genetics (2014) doi:10.1186/1471-2350-15-11

Kara Bülent et al., Adult phenotype and further phenotypic variability in SRD5A3-CDG Clinical-Molecular Genetics and Cytogenetics. BMC Medical Genetics (2014) doi:10.1186/1471-2350-15-10

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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