OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders.
Bottom Line: Clinical synopsis features are enhanced with UMLS, Human Phenotype Ontology and Elements of Morphology terms and image links.All OMIM data are available for FTP download and through an API.MIMmatch is a novel outreach feature to disseminate updates and encourage collaboration.
Affiliation: McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA email@example.com.Show MeSH
Mentions: Gene entries in OMIM are distinguished by an asterisk before the MIM number. A small (91) but diminishing number of entries are combined gene and phenotypes and have a plus sign before the MIM number. Gene entries describe protein-coding genes, regulatory elements, micro-RNAs, non-coding RNAs and other functional elements as they are recognized (Figure 2). Discussion in these entries may include information on gene structure, isoforms, expression, function, crystal structure, molecular genetics, imprinting, methylation and animal models. Many entries have markup language and unique text elements to tag specific information and link it to resources (e.g. MIM numbers, sequence accession numbers, dbSNP numbers (2)). If there are variants in the human gene that lead to a phenotype, the gene will have an AV section, which includes only selected variants as described below.
Affiliation: McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA firstname.lastname@example.org.