Online Mendelian Inheritance in Man (OMIM) is a continuously updated catalog of

human genes This article is an index of lists of human genes. By chromosome Below is a list of articles on human chromosomes, each of which contains an incomplete list of genes located on that chromosome. * Chromosome 1 (human) * Chromosome 2 (human) * Chr ...

and

genetic disorder A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosomal abnormality. Although polygenic disorders ...

s and traits, with a particular focus on the gene-phenotype relationship. , approximately 9,000 of the over 25,000 entries in OMIM represented

phenotype In genetics, the phenotype () is the set of observable characteristics or traits of an organism. The term covers the organism's morphology or physical form and structure, its developmental processes, its biochemical and physiological proper ...

s; the rest represented

gene In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a ba ...

s, many of which were related to known phenotypes.

Versions and history

OMIM is the online continuation of Dr.

Victor A. McKusick Victor Almon McKusick (October 21, 1921 – July 22, 2008) was an American internist and medical geneticist, and Professor of Medicine at the Johns Hopkins Hospital, Baltimore. He was a proponent of the mapping of the human genome due to its ...

's ''Mendelian Inheritance in Man'' (MIM), which was published in 12 editions between 1966 and 1998.McKusick, V. A. ''Mendelian Inheritance in Man. Catalogs of Autosomal Dominant, Autosomal Recessive and X-Linked Phenotypes.'' Baltimore, MD: Johns Hopkins University Press, 1st ed, 1996; 2nd ed, 1969; 3rd ed, 1971; 4th ed, 1975; 5th ed, 1978; 6th ed, 1983; 7th ed, 1986; 8th ed, 1988; 9th ed, 1990; 10th ed, 1992. Nearly all of the 1,486 entries in the first edition of MIM discussed phenotypes. MIM/OMIM is produced and curated at the

Johns Hopkins School of Medicine The Johns Hopkins University School of Medicine (JHUSOM) is the medical school of Johns Hopkins University, a private research university in Baltimore, Maryland. Founded in 1893, the School of Medicine shares a campus with the Johns Hopkins Hospi ...

(JHUSOM). OMIM became available on the internet in 1987 under the direction of the

Welch Medical Library Welch, Welch's, Welchs or Welches may refer to: People *Welch (surname) Places *Welch, Oklahoma, a town, US *Welches, Oregon, an unincorporated community, US * Welch, Texas, an unincorporated community, US * Welchs, Virginia, an unincorporated c ...

at JHUSOM with financial support from the Howard Hughes Medical Institute. From 1995 to 2010, OMIM was available on the

World Wide Web The World Wide Web (WWW), commonly known as the Web, is an information system enabling documents and other web resources to be accessed over the Internet. Documents and downloadable media are made available to the network through web se ...

with

informatics Informatics is the study of computational systems, especially those for data storage and retrieval. According to ACM ''Europe and'' ''Informatics Europe'', informatics is synonymous with computer science and computing as a profession, in which ...

and financial support from the

National Center for Biotechnology Information The National Center for Biotechnology Information (NCBI) is part of the United States National Library of Medicine (NLM), a branch of the National Institutes of Health (NIH). It is approved and funded by the government of the United States. The ...

. The current OMIM website
OMIM.org
, which was developed with funding from JHUSOM, is maintained by

Johns Hopkins University Johns Hopkins University (Johns Hopkins, Hopkins, or JHU) is a private university, private research university in Baltimore, Maryland. Founded in 1876, Johns Hopkins is the oldest research university in the United States and in the western hem ...

with financial support from the

National Human Genome Research Institute The National Human Genome Research Institute (NHGRI) is an institute of the National Institutes of Health, located in Bethesda, Maryland. NHGRI began as the Office of Human Genome Research in The Office of the Director in 1988. This Office transi ...

Collection process and use

The content of MIM/OMIM is based on selection and review of the published

peer-reviewed Peer review is the evaluation of work by one or more people with similar competencies as the producers of the work (peers). It functions as a form of self-regulation by qualified members of a profession within the relevant field. Peer review ...

biomedical literature. Updating of content is performed by a team of science writers and curators under the direction of Dr. Ada Hamosh at the McKusick-Nathans Institute of Genetic Medicine of Johns Hopkins University. While OMIM is freely available to the public, it is designed for use primarily by physicians and other health care professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. The database may be used as a resource for locating literature relevant to inherited conditions, and its numbering system is widely used in the medical literature to provide a unified index for genetic diseases.

OMIM classification system

OMIM numbers

Each OMIM entry is given a unique six-digit identifier as summarized below: * 100000–299999:

Autosomal An autosome is any chromosome that is not a sex chromosome. The members of an autosome pair in a diploid cell have the same morphology, unlike those in allosomal (sex chromosome) pairs, which may have different structures. The DNA in autosom ...

loci or phenotypes (entries created before May 15, 1994) * 300000–399999:

X-linked Sex linked describes the sex-specific patterns of inheritance and presentation when a gene mutation (allele) is present on a sex chromosome (allosome) rather than a non-sex chromosome (autosome). In humans, these are termed X-linked recessive, ...

loci or phenotypes * 400000–499999:

Y-linked Y linkage, also known as holandric inheritance (from Ancient Greek ὅλος ''hólos'', "whole" + ἀνδρός ''andrós'', "male"), describes traits that are produced by genes located on the Y chromosome. It is a form of sex linkage. Y&nbs ...

loci or phenotypes * 500000–599999: Mitochondrial loci or phenotypes * 600000 and above: Autosomal loci or phenotypes (entries created after May 15, 1994) In cases of

allelic heterogeneity Allelic heterogeneity is the phenomenon in which different mutations at the same locus lead to the same or very similar phenotypes. These allelic variations can arise as a result of natural selection processes, as a result of exogenous mutagens ...

, the MIM number of the entry is followed by a decimal point and a unique 4-digit number specifying the variant. For example, allelic variants in the HBB gene (141900) are numbered 141900.0001 through 141900.0538. Because OMIM has responsibility for the classification and naming of genetic disorders, these numbers are stable identifiers of the disorders.

Symbols preceding MIM numbers

Symbols preceding MIM numbers indicate the entry category: * An asterisk (*) before an entry number indicates a gene. * A number symbol (#) before an entry number indicates that it is a descriptive entry, usually of a phenotype, and does not represent a unique locus. The reason for the use of the number symbol is given in the first paragraph of the entry. Discussion of any gene(s) related to the phenotype resides in another entry (or entries) as described in the first paragraph. * A plus sign (+) before an entry number indicates that the entry contains the description of a gene of known sequence and a phenotype. * A percent sign (%) before an entry number indicates that the entry describes a confirmed Mendelian phenotype or phenotypic locus for which the underlying molecular basis is not known. * No symbol before an entry number generally indicates a description of a phenotype for which the Mendelian basis, although suspected, has not been clearly established or that the separateness of this phenotype from that in another entry is unclear. * A

caret Caret is the name used familiarly for the character , provided on most QWERTY keyboards by typing . The symbol has a variety of uses in programming and mathematics. The name "caret" arose from its visual similarity to the original proofreade ...

(^) before an entry number means the entry no longer exists because it was removed from the database or moved to another entry as indicated.

References

External links

{{Wikidata property, P492
OMIM home page
Biological databases Diagnosis classification