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 +
OMIM Alellic Variant Phenotypes (OMIM Alleles)
Variants in the OMIM database that have associated
dbSNP identifiers.
-
OMIM Genes +
OMIM Gene Phenotypes (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 +
OMIM Cytogenetic Loci Phenotypes - Gene Unknown (OMIM Cyto Loci)
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.