Online Mendelian Inheritance in Man (OMIM)
What is Online Mendelian Inheritance in Man (OMIM)?
OMIM is an authoritative, comprehensive collection of human genes and genetic phenotypes. It is freely available and updated daily.
OMIM provides detailed overviews of all known Mendelian disorders and more than 16,000 genes, focusing on the relationship between genotype (genetic makeup) and phenotype (observable traits). Each entry in OMIM often includes links to additional genetic resources for further information.
The OMIM database was initially developed by Dr. Victor A. McKusick in the early 1960s to catalog Mendelian traits and disorders. From 1966 to 1998, twelve editions of the book “Mendelian Inheritance in Man” (MIM) were published. The online version of the database was created in 1985 through a collaboration between Johns Hopkins University and the National Library of Medicine.
Why is OMIM important for healthcare?
By collecting and making accessible all available information on human genes and genetic disorders and traits, OMIM contains information that may lead to innovative ways to diagnose and treat disease, especially as genetic engineering continues to evolve and develop.
Furthermore, the information within OMIM may lead to better methods of disease detection, which can lead to quicker detection and the potential for early interventions that save lives and improve quality of life.