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Updated: Jun 29, 2026
09:37
Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
Published on: August 15, 2019
McKusick's Online Mendelian Inheritance in Man (OMIM)
Joanna Amberger1, Carol A Bocchini, Alan F Scott
1McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
Nucleic Acids Research
|October 10, 2008
Summary
Online Mendelian Inheritance in Man (OMIM) is a comprehensive database of human genes and phenotypes. It is continuously updated with new genetic and disease information derived from biomedical literature.
Area of Science:
- Human genetics
- Medical genetics
- Biomedical informatics
Background:
- McKusick's Online Mendelian Inheritance in Man (OMIM) is a vital knowledgebase detailing human genes and phenotypes.
- Originally published as a book in 1966, OMIM has evolved into a dynamic digital resource.
- Its content is exclusively sourced from the published biomedical literature.
Purpose of the Study:
- To describe the scope and ongoing development of the OMIM knowledgebase.
- To highlight OMIM's role in cataloging genetic and phenotypic information.
- To illustrate the database's expansion in response to scientific advancements.
Main Methods:
- Content curation from published biomedical literature.
- Daily updates to reflect new scientific findings.
- Expansion of content and organizational structure.
Main Results:
- OMIM currently contains 18,961 full-text entries on phenotypes and genes.
- Mutations causing disease are identified in 2239 genes.
- A molecular basis has been established for 3770 diseases.
- Approximately 70 new entries and 700 updates occur monthly.
Conclusions:
- OMIM serves as a critical, continuously updated resource for human genetic and phenotypic information.
- The knowledgebase is adapting its content and organization to incorporate emerging biological paradigms and biotechnologies.
- OMIM remains an indispensable tool for researchers in genetics and medicine.
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Overview
01:43Incomplete Dominance
Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
01:19X-linked Traits
In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.
01:19X-linked Traits
In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.
01:43Sex-linked Disorders
Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
02:41Lethal Alleles
Agouti: A Lethal Allele
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...