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.|
- 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
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
McDonell M Laura et al., The utility of exome sequencing for genetic diagnosis in a familial microcephaly epilepsy syndrome Neurogenetics. BMC Neurology (2014) doi:10.1186/1471-2377-14-22
Dogan Hasan et al., A novel insertion mutation identified in exon 10 of the MEFV gene associated with Familial Mediterranean Fever Clinical-Molecular Genetics and Cytogenetics. BMC Medical Genetics (2014) doi:10.1186/1471-2350-15-74
Dönitz Jürgen et al., EndoNet: an information resource about the intercellular signaling network Networks and information flow. BMC Systems Biology (2014) doi:10.1186/1752-0509-8-49
Tayebi Naeimeh et al., Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families. Orphanet Journal of Rare Diseases (2014) doi:10.1186/s13023-014-0108-6
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.
The materials and slides offered can not be resold or used for profit purposes. Reproduction, distribution and/or use is strictly limited to instructional purposes only and can not be used for for monetary gain or wide distribution.
Copyright 2009, OpenHelix, LLC.