OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that serves as a compendium of human genes and genetic disorders. It is a well-curated and extensively referenced resource that provides detailed information on the relationships between genes and inherited disorders or traits, with a primary focus on diseases caused by genetic alterations.
OMIM was initially created by Dr. Victor A. McKusick in the 1960s as a print publication and later transitioned to an online database in collaboration with the National Center for Biotechnology Information (NCBI). It is widely utilized by researchers, clinicians, genetic counselors, and students to gain insight into various genetic disorders and better understand their underlying mechanisms.
The OMIM database contains individual entries for over 25,000 genes and over 16,000 genetic disorders, along with extensive literature references and links to external resources. Each entry provides in-depth information about the gene, its function, associated disorders, mode of inheritance, clinical features, and related gene variants. It also includes a summary of the genetic basis underlying each disorder, including information on mutations, allelic variants, and the pathophysiology involved.
OMIM plays a vital role in the field of genetics by facilitating the discovery, diagnosis, and understanding of various genetic disorders. It is a valuable resource for geneticists and other healthcare professionals in their efforts to provide accurate diagnoses, improve patient care, and conduct further research into the genetic causes and mechanisms underlying human diseases.
