The Online Mendelian Inheritance in Man (OMIM) is a comprehensive database cataloging human genes, genetic disorders, and phenotypic traits, with approximately 25,000 entries as of June 2019. Maintained by Johns Hopkins University, OMIM features daily updates and includes extensive links to other genetics resources. The database serves as a critical resource for understanding the gene-phenotype relationship and is utilized in medical literature for a unified index of genetic diseases.

1. OMIM
Kishore Kr Gupta
Drosophila cytogenetics and Molecular Lab
Department of Zoology
VBU. Hazaribag
Jharkhand India
Online Mendelian Inheritance in Man

2. Genetic diseases
#11

4. Some Mendelian Inherited disorders

5. Literature database

7. OMIM –Introduction
• Online Mendelian Inheritance in Man (OMIM) is a
continuously updated catalog of human genes
and genetic disorders and traits,
• Specifically focus on the gene-phenotype
relationship.
• By 28 June 2019,
• There are approximately 25000 entries of which
• 9,000 represented phenotypes;
• 16000 represented genes,
• Websites -https://www.omim.org

8. Continued
Content
Description Catalog of all known human genes and
genetic phenotypes.
Data types
captured
Genes, genetic disorders, phenotypic
traits
Organisms Homo sapiens
Contact
Research center Johns Hopkins University School of
Medicine
Primary citation PMID 21472891
Access
Website http://www.omim.org/
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 Institute

9. Features
1. 1960= Database was initiated i by Dr. Victor A. McKusick as a
catalog of mendelian traits and disorders, entitled Mendelian
Inheritance in Man (MIM).
2. OMIM is a comprehensive, authoritative compendium of
human genes and genetic phenotypes
3. It is freely available to users and updated daily.
4. 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.
5. The entries provides copious links to other genetics resources.
6. 1966 and 1998. Twelve book editions of MIM were published
between
7. 1985 - The online version of OMIM, was created in
collaboration between the National Library of Medicine and the
William H. Welch Medical Library at Johns Hopkins
8. 1987-. Available on the internet.
9. 1995, OMIM was developed for the World Wide Web by NCBI,
the National Center for Biotechnology Information.
10. The content of MIM/OMIM is based on selection and review of
the published Peer reviewed biomedical literature.
Victor A. McKusick
(1921-2008)
founding father
of
medical genetics

10. 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.
• 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
indicated.

11. Advanced search of OMIM
• Online Mendelian Inheritance in Man (OMIM) RefSeqGene;
• All Genes & Expression Resources...
• Genetics & Medicine.
• Bookshelf;
• Database of Genotypes and Phenotypes (dbGaP)
• Genetic Testing Registry;
• Influenza Virus;
• Online Mendelian Inheritance in Man (OMIM) PubMed; PubMed
Central (PMC) PubMed Clinical Queries; RefSeqGene; All Genetics &
Medicine Resources... Genomes & Maps. Database of …
• Location: 8600 Rockville Pike, Bethesda, MD
• https://www.ncbi.nlm.nih.gov/omim/advanced
•

12. OMIM Entries & Classification system
MIM Number Prefix Autosomal
X
Linked Y Linked Mt Totals
Gene description * 15,480 743 51 37 16,311
Gene and phenotype,
combined +
35 0 0 0 35
Phenotype description,
molecular basis known #
5,454 345 5 33 5,837
Phenotype description or
locus, molecular basis
unknown %
1,420 117 4 0 1,541
Other, mainly phenotypes
with suspected mendelian
basis
1,667 103 3 0 1,773
Totals 24,056 1,308 63 70 25,497

13. Application
• The database may be used as a resource for
locating literature relevant to inherited
conditions.
• Numbering system is widely used in the
medical literature to provide a unified index
for genetic diseases.

14. THANKS FOR PATIENCE