Online Mendelian Inheritance in Man

Online Mendelian Inheritance in Man (OMIM) is a comprehensive, authoritative, and timely compendium of human genes and genetic phenotypes. The full-text, referenced overviews in OMIM contain information on all known Mendelian disorders and over 15,000 genes. OMIM focuses on the relationship between phenotype and genotype. It is updated daily, and the entries contain copious links to other genetics resources.

History

OMIM was initiated in the early 1960s by Dr. Victor A. McKusick as a catalog of Mendelian traits in man. It was originally published as a book series entitled "Mendelian Inheritance in Man". In 1987, with the advent of the internet, it was digitized and made available online as OMIM.

Content

OMIM entries are numbered and divided into three types:

• Phenotype entries are descriptions of disorders and traits and are designated by a number prefix.
• Gene entries provide information about the gene associated with the disorder or trait and are designated by a plus sign (+) before the number.
• Locus entries describe a specific chromosomal location but do not show a known gene or phenotype.

Each entry follows a specific format that includes: the title, text summary, clinical features, molecular genetics, and references.

Usage

OMIM is used by researchers, clinicians, and genetic counselors to find comprehensive information about specific genetic disorders, the genes associated with those disorders, and the latest research developments. It is also used by students studying genetics and by individuals looking for information about a specific genetic disorder.

Access

OMIM is freely available to the public. However, it is not intended for use as a substitute for professional medical advice, diagnosis, or treatment.

See also

• Human Genome Project
• Genetics
• Genetic disorder
• Mendelian inheritance

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