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Online Mendelian Inheritance in Man (OMIM) is a continuously updated catalog of human genes and genetic disorders and traits, with a particular focus on the gene-phenotype relationship. As of 28 June 2019 [update] , approximately 9,000 of the over 25,000 entries in OMIM represented phenotypes ; the rest represented genes , many of which were ...
This is a list of disorder codes in the Online Mendelian Inheritance in Man (OMIM) database. These are diseases that can be inherited via a Mendelian genetic mechanism. OMIM is one of the databases housed in the U.S. National Center for Biotechnology Information. Isolated 17,20-lyase deficiency; 202110; CYP17A1
Supported by the NCBI, The Online Mendelian Inheritance in Man (OMIM) is a database that catalogues all the known diseases with a genetic component, and predicts their relationship to relevant genes in the human genome and provides references for further research and tools for genomic analysis of a catalogued gene. [19]
Common violations of the Mendelian model include incomplete dominance, codominance, genetic linkage, environmental effects, and quantitative contributions from a number of genes (see: gene interactions, polygenic inheritance, oligogenic inheritance). [1] [2] OMIM (Online Mendelian Inheritance in Man) [3] is a comprehensive database of human ...
He published Mendelian Inheritance in Man (MIM), which was the first published catalog of all known genes and genetic disorders, in 1966. [7] The complete text of MIM was made available online free of charge beginning in 1987, and titled Online Mendelian Inheritance in Man (OMIM). [2] The 12th and final print edition was published in 1998.
These three databases are primary databases, as they house original sequence data. They collaborate with Sequence Read Archive (SRA), which archives raw reads from high-throughput sequencing instruments. Secondary databases are: [clarification needed] 23andMe's database; HapMap; OMIM (Online Mendelian Inheritance in Man): inherited diseases; RefSeq
All databases indexed by Entrez can be searched via a single query string, supporting Boolean operators and search term tags to limit parts of the search statement to particular fields. This returns a unified results page, that shows the number of hits for the search in each of the databases, which are also linked to actual search results for ...
This template creates a reference citation to a specific, numbered page in the Online Mendelian Inheritance in Man database. The general format is {{OMIM|#####|page name|display options}} ##### is the OMIM page number. page name is an optional parameter to display the OMIM page name; display options is an optional parameter to set various ...