OMIM: Online Mendelian Inheritance in Man

Unrestricted Access

Description

OMIM: Online Mendelian Inheritance in Man is a free, continuously updated catalog of human genes and genetic disorders and traits, with particular focus on the molecular relationship between genetic variation and phenotypic expression. OMIM contains information on all known mendelian disorders and over 15,000 genes.

OMIM is based on the peer-reviewed biomedical literature. Information in each OMIM entry is cited, and the full reference is provided. OMIM prioritizes papers that provide significant insight into the gene-phenotype relationship, expand our understanding of human biology, or contribute to the characterization of a disorder. OMIM is biocurated at the McKusick-Nathans Institute of Genetic Medicine at The Johns Hopkins University School of Medicine.

OMIM is the electronic counterpart and continuation of the print publication Mendelian Inheritance in Man, which was published in 12 editions from 1966 to 1998.

Dates covered

Current information.

Type of coverage

Reference information on genes and genetic disorders.

Vendor/electronic presentation provider

McKusick-Nathans Institute of Genetic Medicine at The Johns Hopkins University School of Medicine