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
View additional tutorials for resources in
Recent BioMed Central research articles citing this resource
Oellrich Anika et al., The influence of disease categories on gene candidate predictions from model organism phenotypes Proceedings of the Bio-Ontologies Special Interest Group 2013 Bio-Ontologies Special Interest Group 2013. Journal of Biomedical Semantics (2014) doi:10.1186/2041-1480-5-S1-S4
Velasco Guillaume et al., Germline genes hypomethylation and expression define a molecular signature in peripheral blood of ICF patients: implications for diagnosis and etiology. Orphanet Journal of Rare Diseases (2014) doi:10.1186/1750-1172-9-56
Lin Hsiang-Yu et al., Natural history and clinical assessment of Taiwanese patients with mucopolysaccharidosis IVA. Orphanet Journal of Rare Diseases (2014) doi:10.1186/1750-1172-9-21
Mutarelli Margherita et al., A community-based resource for automatic exome variant-calling and annotation in Mendelian disorders Italian Society of Bioinformatics (BITS): Annual Meeting 2013: Genomics Tenth Annual Meeting of the Italian Society of Bioinformatics (BITS). BMC Genomics (2014) doi:10.1186/1471-2164-15-S3-S5
Strom P Samuel et al., De Novo variants in the KMT2A MLL ) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing Clinical-Molecular Genetics and Cytogenetics. BMC Medical Genetics (2014) doi:10.1186/1471-2350-15-49
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.