OMIM

OMIM

File:OMIM logo.png

OMIM logo

Online Mendelian Inheritance in Man (OMIM) is a comprehensive and authoritative database that provides information on human genes and genetic disorders. It is widely used by researchers, clinicians, and students in the field of genetics and genomics. OMIM is maintained and updated by the Johns Hopkins University School of Medicine.

History

OMIM was first created in the early 1960s by Dr. Victor A. McKusick, a renowned geneticist. Initially, it was published as a book called Mendelian Inheritance in Man. In 1985, OMIM transitioned to an online format, making it more accessible and easier to update. Over the years, the database has grown significantly, incorporating new discoveries and advancements in the field of genetics.

Content and Organization

OMIM contains detailed information on over 25,000 genes and more than 15,000 genetic disorders. Each entry in the database provides a comprehensive summary of the gene or disorder, including its molecular basis, clinical features, inheritance patterns, and related references. The information is meticulously curated from scientific literature, ensuring its accuracy and reliability.

The database is organized into numbered entries, with each entry representing a specific gene or disorder. The entries are categorized based on the mode of inheritance, such as autosomal dominant, autosomal recessive, X-linked, and mitochondrial. This categorization allows users to easily navigate and search for relevant information.

Features and Tools

OMIM offers several features and tools to enhance the user experience and facilitate research. One of the key features is the ability to search and browse the database using keywords or specific gene symbols. The search results provide a list of relevant entries, allowing users to quickly access the desired information.

OMIM also provides links to external resources, such as PubMed and GeneReviews, for further exploration of related literature. Additionally, the database offers a variety of data analysis tools, including sequence analysis, variant interpretation, and genotype-phenotype correlations. These tools enable researchers to analyze and interpret genetic data in the context of OMIM's comprehensive knowledge base.

Community and Collaboration

OMIM encourages community participation and collaboration in maintaining and updating the database. Users can contribute to the database by submitting new information, corrections, or updates through the OMIM website. The submissions are reviewed by the OMIM team before being incorporated into the database, ensuring the quality and accuracy of the information.

OMIM also provides a platform for researchers and clinicians to share their findings and insights through the OMIM Morbid Map. This feature allows users to contribute their knowledge on the relationships between genes and diseases, further enriching the database.

Impact and Importance

OMIM has played a crucial role in advancing our understanding of human genetics and genetic disorders. It has become an indispensable resource for researchers, clinicians, and students in the field. The comprehensive and up-to-date information provided by OMIM has facilitated the identification and characterization of disease-causing genes, leading to improved diagnosis, treatment, and genetic counseling for patients and their families.

Furthermore, OMIM has served as a foundation for numerous research studies and has contributed to the development of targeted therapies and precision medicine approaches. The database continues to evolve and expand, incorporating new discoveries and advancements in the field of genetics, ensuring its relevance and importance in the years to come.

External Links

• Official OMIM Website
• OMIM on NCBI