Mendelian Inheritance in Man
| Content | |
|---|---|
| Description | Catalog of all known human genes and genetic phenotypes. |
| Data types captured |
Genes, genetic disorders, phenotypic traits |
| Organisms | Homo sapiens |
| Contact | |
| Research center | Johns Hopkins University School of Medicine |
| Primary citation | PMID 21472891 |
| Access | |
| Website | http://www.omim.org/ |
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 12 February 2017[update], approximately 8,425 of the over 23,000 entries in OMIM represented phenotypes; the rest represented genes, many of which were related to known phenotypes.
OMIM is the online continuation of Dr. Victor McKusick's Mendelian Inheritance in Man (MIM), which was published in 12 editions between 1966 and 1998. Nearly all of the 1,486 entries in the first edition of MIM discussed phenotypes.
MIM/OMIM is produced and curated at the Johns Hopkins University School of Medicine (JHUSOM). OMIM became available on the internet in 1987 under the direction of the Welch Medical Library at JHUSOM with financial support from the Howard Hughes Medical Institute. From 1995 to 2010, OMIM was available on the World Wide Web with informatics and financial support from the National Center for Biotechnology Information. The current OMIM website (OMIM.org), which was developed with funding from JHUSOM, is maintained by Johns Hopkins University with financial support from the National Human Genome Research Institute.
The content of MIM/OMIM is based on selection and review of the published peer-reviewed biomedical literature. Updating of content is performed by a team of science writers and curators under the direction of Dr. Ada Hamosh at the McKusick-Nathans Institute of Genetic Medicine of Johns Hopkins University. While OMIM is freely available to the public, it is designed for use primarily by physicians and other health care professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine.
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