OMIM

The Online Mendelian Inheritance in Man, commonly abbreviated as OMIM, is a comprehensive catalog of human genes and genetic phenotypes that have been linked to specific traits and disorders. It is maintained by the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, and the National Center for Biotechnology Information (NCBI). OMIM aims to document all known human genes and heritable diseases, providing detailed textual descriptions alongside links to relevant genetic and clinical information.

The entries in OMIM are organized by a unique six-digit number. Genes are typically assigned numbers in the 100000-299999 range, while phenotypes (disorders and traits) are in the 300000-399999 range. Allelic variants or phenotypes that have been mapped to a specific chromosomal location but whose gene has not yet been identified are designated with numbers in the 400000-499999 range. The OMIM database is constantly updated as new genetic discoveries are made and existing information is refined. It serves as a vital resource for researchers, clinicians, and students in the fields of genetics, medicine, and biology, facilitating the understanding of genetic diseases and their inheritance patterns. Access to OMIM is freely available to the public online.