The Online Mendelian Inheritance in Man is an an online database that was originally a catalog from the 1960's called Mendelian Inheritance in Man and was generated by Dr. Victor A. McKusick. The online version contains full-text scientific articles focused on the connection between genotypes and phenotypes for mendelian diseases. It is intended to be used by students, researchers, and clinical practitioners, though the public can access the information as well.
Users can visit the website and use the search bar to find information about topics such as clinical features, phenotypes, and genes. For an advanced search, there is a clinical synopses and gene map feature. Users can also see phenotype-gene statistics and download some articles and data.
Allelic variants are given identification numbers on the database and are categorized with various symbols, such as an asterisk indicating that it is a gene and a plus sign indicating that the entry contains the gene of a known sequence and phenotype.
Online Mendelian Inheritance in Man (OMIM)
Ada Hamosh, Alan F Scott, Joanna Amberger, David Valle, Victor A Mckusick
Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders
Ada Hamosh et al.
January 1, 2005
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