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
Horvath Gabriella et al., Three years experience with dried blood spot Ī±-glucosidase screening for Pompe disease in British Columbia, Canada 6th European Symposium: Steps Forward in Pompe Disease Proceedings of the 6th European Symposium: Steps Forward in Pompe Disease. BMC Musculoskeletal Disorders (2013) doi:10.1186/1471-2474-14-S2-P2
Suto Jun-ichi et al., Y chromosome of the inbred mouse KK/Ta strain is associated with reduced body size in Y-consomic strains. BMC Research Notes (2013) doi:10.1186/1756-0500-6-64
Craigen J William et al., Exome sequencing of a patient with suspected mitochondrial disease reveals a likely multigenic etiology Clinical-Molecular Genetics and Cytogenetics. BMC Medical Genetics (2013) doi:10.1186/1471-2350-14-83
Tan Ene-Choo et al., De novo 2.3 Mb microdeletion of 1q32.2 involving the Van der Woude Syndrome locus. Molecular Cytogenetics (2013) doi:10.1186/1755-8166-6-31
Blandin GaĆ«lle et al., A human skeletal muscle interactome centered on proteins involved in muscular dystrophies: LGMD interactome. Skeletal Muscle (2013) doi:10.1186/2044-5040-3-3
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.