Online Mendelian Inheritance in Man (OMIM) is a continuously updated
catalog of human genes and genetic disorders and traits, with a
particular focus on the gene-phenotype relationship. As of
12 February 2017[update], approximately 8,425 of the over
23,000 entries in OMIM represented phenotypes; the rest represented
genes, many of which were related to known phenotypes.
1 Versions and history
2 Collection process and use
3 MIM classification system
3.1 MIM numbers
3.2 Symbols preceding MIM numbers
4 See also
6 External links
Versions and history
OMIM is the online continuation of Dr. Victor A. McKusick's Mendelian
Inheritance in Man (MIM), which was published in 12 editions between
1966 and 1998. 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 (JHUSOM). OMIM became available on the internet in 1987 under
the direction of the Welch Medical Library at JHUSOM with financial
support from the Howard Hughes Medical Institute. From 1995 to 2010,
OMIM was available on the
World Wide Web
World Wide Web with informatics and
financial support from the National Center for Biotechnology
Information. The current OMIM website (OMIM.org), which was developed
with funding from JHUSOM, is maintained by Johns Hopkins University
with financial support from the National Human Genome Research
Collection process and use
The content of MIM/OMIM is based on selection and review of the
published peer-reviewed 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
MIM classification system
See also: List of OMIM disorder codes
Each OMIM entry is given a unique six-digit identifier as
Autosomal loci or phenotypes (entries created before
May 15, 1994)
X-linked loci or phenotypes
Y-linked loci or phenotypes
Mitochondrial loci or phenotypes
600000 and above:
Autosomal loci or phenotypes (entries created after
May 15, 1994)
In cases of allelic heterogeneity, 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
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 (^) before an entry number means the entry no longer exists
because it was removed from the database or moved to another entry as
Online Mendelian Inheritance in Animals
Comparative Toxicogenomics Database, a database that integrates
chemicals and genes with human diseases, including OMIM data.
DECIPHER, a database of chromosomal imbalance and associated phenotype
in humans, using
MARRVEL, a website that uses OMIM as one of the six human genetic
databases and seven model organism databases to integrate information.
^ "OMIM Entry Statistics". Online Mendelian Inheritance in Man.
Baltimore, MD: McKusick-Nathans Institute of Genetic Medicine, Johns
Hopkins University. 2017. Retrieved 12 February 2017.
^ a b McKusick, V. A. Mendelian Inheritance in Man. Catalogs of
Autosomal Recessive and X-Linked Phenotypes.
Johns Hopkins University
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.
^ McKusick, V. A. Mendelian Inheritance in Man. A Catalog of Human
Genes and Genetic Disorders. Baltimore, MD: Johns Hopkins University
Press, 11th ed, 1994; 12th ed, 1998.
^ McKusick, V. A. (2007). "Mendelian Inheritance in Man and its online
version, OMIM". Am. J. Hum. Genet. 80 (4): 588–604.
doi:10.1086/514346. PMC 1852721 . PMID 17357067.
^ a b c Amberger, J.; Bocchini, C.; Hamosh, A. (2011). "A new face and
new challenges for
Online Mendelian Inheritance in Man (OMIM®)". Hum.
Mutat. 32 (5): 564–7. doi:10.1002/humu.21466.
^ Amberger, J.S.; Bocchini, C.A.; Schiettecatte, F.; Scott, A.F.;
Hamosh, A. (2015). "OMIM.org: Online Mendelian Inheritance in Man
(OMIM®), an online catalog of human genes and genetic disorders".
Nucleic Acids Res. 43 (Database issue): D789–98.
doi:10.1093/nar/gku1205. PMC 4383985 .
^ Gitomer, W.; Pak, C. (1996). "Recent advances in the biochemical and
molecular biological basis of cystinuria". The Journal of Urology. 156
(6): 1907–1912. doi:10.1016/S0022-5347(01)65389-8.
^ Tolmie, J.; Shillito, P.; Hughes-Benzie, R.; Stephenson, J. (1995).
"The Aicardi-Goutières syndrome (familial, early onset encephalopathy
with calcifications of the basal ganglia and chronic cerebrospinal
fluid lymphocytosis)". Journal of Medical Genetics. 32 (11):
881–884. doi:10.1136/jmg.32.11.881. PMC 1051740 .
^ a b "FAQ, §1.2". Online Mendelian Inheritance in Man. Baltimore,
MD: McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins
University. 2015. Retrieved 23 July 2015.
^ "Hemoglobin beta locus or
HBB (141900): Allelic variants". Online
Mendelian Inheritance in Man. Baltimore, MD: McKusick-Nathans
Institute of Genetic Medicine, Johns Hopkins University. 2015.
Retrieved 23 July 2015.
^ "FAQ, §1.3". Online Mendelian Inheritance in Man. Baltimore, MD:
McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins
University. 2015. Retrieved 23 July 2015.
Wikidata has the property: OMIM ID (P492) (see talk; uses)