Online Mendelian Inheritance in Man (OMIM): A database of human genes, genetic diseases and disorders
Free Tutorial Suite Sponsored By OMIM
|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
Ozturk Ferhat et al., Systematic analysis of palatal transcriptome to identify cleft palate genes within TGFÎ²3-knockout mice alleles: RNA-Seq analysis of TGFÎ²3 Mice Human and rodent genomics. BMC Genomics (2013) doi:10.1186/1471-2164-14-113
Xiong Zhimin et al., Hutchinson-Gilford progeria syndrome accompanied by severe skeletal abnormalities in two Chinese siblings: two case reports. Journal of Medical Case Reports (2013) doi:10.1186/1752-1947-7-63
Moore B Carrie et al., BioBin: a bioinformatics tool for automating the binning of rare variants using publicly available biological knowledge Selected articles from the Second Annual Translational Bioinformatics Conference (TBC 2012) Second Annual Translational Bioinformatics Conference (TBC 2012). BMC Medical Genomics (2013) doi:10.1186/1755-8794-6-S2-S6
Callahan Alison et al., Ontology-Based Querying with Bio2RDFâ€™s Linked Open Data Proceedings of the Bio-Ontologies Special Interest Group 2012 Bio-Ontologies 2012. Journal of Biomedical Semantics (2013) doi:10.1186/2041-1480-4-S1-S1
Blumenberg Miroslav et al., Profiling and metaanalysis of epidermal keratinocytes responses to epidermal growth factor Transcriptomics. BMC Genomics (2013) doi:10.1186/1471-2164-14-85
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.
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