Description
NOTE:
OMIM is intended for use primarily by physicians and other
professionals concerned with genetic disorders, by genetics researchers, and
by advanced students in science and medicine. While the OMIM database is
open to the public, users seeking information about a personal medical or
genetic condition are urged to consult with a qualified physician for
diagnosis and for answers to personal questions. Further, please be
sure to click through to omim.org for the very latest, as they are continually
updating data.
NOTE ABOUT DOWNLOADS:
OMIM is the property
of Johns Hopkins University and is not available for download or mirroring
by any third party without their permission. Please see
OMIM
for downloads.
OMIM is a compendium of human genes and genetic phenotypes. The full-text,
referenced overviews in OMIM contain information on all known Mendelian
disorders and over 12,000 genes. OMIM is authored and edited at the
McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University
School of Medicine, under the direction of Dr. Ada Hamosh. This database
was initiated in the early 1960s by Dr. Victor A. McKusick as a catalog
of Mendelian traits and disorders, entitled Mendelian Inheritance
in Man (MIM).
The OMIM data are separated into three separate tracks:
OMIM Alleles
Variants in the OMIM database that have associated
dbSNP identifiers.
OMIM Genes
The genomic positions of gene entries in the OMIM
database. The coloring indicates the associated OMIM phenotype map key.
OMIM Phenotypes - Gene Unknown
Regions known to be associated with a phenotype,
but for which no specific gene is known to be causative. This track
also includes known multi-gene syndromes.
This track shows the allelic variants in the Online Mendelian Inheritance in Man
(OMIM) database that have associated
dbSNP identifiers.
Display Conventions and Configuration
Genomic positions of OMIM allelic variants are marked by solid blocks, which appear
as tick marks when zoomed out.
The details page for each variant displays the allelic variant description, the amino
acid replacement, and the associated
dbSNP and/or
ClinVar identifiers with links to the
variant's details at those resources.
The descriptions of OMIM entries are shown on the main browser display when Full display
mode is chosen. In Pack mode, the descriptions are shown when mousing over each entry.
Methods
This track was constructed as follows:
- The OMIM allelic variant data file mimAV.txt was obtained from OMIM and
loaded into the MySQL table omimAv.
- The genomic position for each allelic variant in omimAv with an associated
dbSnp identifier was obtained from the snp144 table. The OMIM AV identifiers and
their corresponding genomic positions from dbSNP were then loaded into the omimAvSnp
table.
Credits
Thanks to OMIM and NCBI for the use of their data. This track was constructed by Fan Hsu,
Robert Kuhn, and Brooke Rhead of the UCSC Genome Bioinformatics Group.
References
Amberger J, Bocchini CA, Scott AF, Hamosh A.
McKusick's Online Mendelian Inheritance in Man (OMIM).
Nucleic Acids Res. 2009 Jan;37(Database issue):D793-6.
PMID: 18842627; PMC: PMC2686440
Hamosh A, Scott AF, Amberger JS, Bocchini CA, McKusick VA.
Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic
disorders.
Nucleic Acids Res. 2005 Jan 1;33(Database issue):D514-7.
PMID: 15608251; PMC: PMC539987