Online Mendelian Inheritance in Man

Online Mendelian Inheritance in Man ( OMIM ) is a database in which human genes and their mutations are detected. Hereditary diseases are thus very easily identifiable. The database also contains information on clinical symptoms, mode of inheritance, molecular genetics and scientific publications on this topic. The site allows an easy search terms, but also composite Searching with Boolean operators AND, OR, and NOT, multistage composite search orders and the " geographical " Specifies the page to be scanned chromosome regions. Also, an index is available. OMIM heard - like the PubMed database - the National Center for Biotechnology Information (NCBI ) of the United States.

Background

Mendelian Inheritance in Man was first released in 1966 as the book catalog of Victor McKusick, who was the project also always connected.

OMIM is curated by the Johns Hopkins University and is available free of charge via the National Center for Biotechnology Information.

Each OMIM entry is generated by scientists and doctors, and consists of a summary of genes and genetically determined phenotypes with their corresponding links to other databases such as Entrez Nucleotide, Entrez Protein, Unigene etc.

On 29 January 2012, the database included entries to 21053 documented or suspected genetic defects, including 13214, whose gene locus could be mapped. Since a complete correlation of genotype and phenotype could be achieved only for a few diseases so far, their share is correspondingly low at just 0.79 % of all entries.