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
Johannesma C Paul et al., Spontaneous pneumothorax as indicator for Birt-Hogg-Dubé syndrome in paediatric patients Genetics and congenital disorders. BMC Pediatrics (2014) doi:10.1186/1471-2431-14-171
Pinto Plaza Irene et al., A non-syndromic intellectual disability associated with a de novo microdeletion at 7q and 18p, microduplication at Xp, and 18q partial trisomy detected using chromosomal microarray analysis approach. Molecular Cytogenetics (2014) doi:10.1186/1755-8166-7-44
Garcia Benjamin et al., Network and matrix analysis of the respiratory disease interactome Networks and information flow. BMC Systems Biology (2014) doi:10.1186/1752-0509-8-34
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
Fröhler Sebastian et al., Exome sequencing helped the fine diagnosis of two siblings afflicted with atypical Timothy syndrome (TS2) I don apos;t know (editor will assign section). BMC Medical Genetics (2014) doi:10.1186/1471-2350-15-48
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.