Database Commons

a catalog of biological databases

e.g., animal; RNA; Methylation; China

Database Profile

General information

URL: http://www.omim.org/
Full name: Online Mendelian Inheritance in Man
Description: A comprehensive,authoritative and timely research resource of curated descriptions of human genes and phenotypes and the relationships between them.
Year founded: 1985
Last update: 2016-08-13
Version:
Accessibility:
Manual:
Accessible
Real time : Checking...
Country/Region: United States
Data type:
DNA
Data object:
Database category:
Major organism:
Keywords:

Contact information

University/Institution: Johns Hopkins University
Address: Baltimore, MD 21287,USA
City: Baltimore
Province/State: MD
Country/Region: United States
Contact name (PI/Team): Joanna S. Amberger
Contact email (PI/Helpdesk): joanna@peas.welch.jhu.edu

Publications

25428349
OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders. [PMID: 25428349]
Amberger JS, Bocchini CA, Schiettecatte F, Scott AF, Hamosh A.

Online Mendelian Inheritance in Man, OMIM(®), is a comprehensive, authoritative and timely research resource of curated descriptions of human genes and phenotypes and the relationships between them. The new official website for OMIM, OMIM.org (http://omim.org), was launched in January 2011. OMIM is based on the published peer-reviewed biomedical literature and is used by overlapping and diverse communities of clinicians, molecular biologists and genome scientists, as well as by students and teachers of these disciplines. Genes and phenotypes are described in separate entries and are given unique, stable six-digit identifiers (MIM numbers). OMIM entries have a structured free-text format that provides the flexibility necessary to describe the complex and nuanced relationships between genes and genetic phenotypes in an efficient manner. OMIM also has a derivative table of genes and genetic phenotypes, the Morbid Map. OMIM.org has enhanced search capabilities such as genome coordinate searching and thesaurus-enhanced search term options. Phenotypic series have been created to facilitate viewing genetic heterogeneity of phenotypes. Clinical synopsis features are enhanced with UMLS, Human Phenotype Ontology and Elements of Morphology terms and image links. All OMIM data are available for FTP download and through an API. MIMmatch is a novel outreach feature to disseminate updates and encourage collaboration. © The Author(s) 2014. Published by Oxford University Press on behalf of Nucleic Acids Research.

Nucleic Acids Res. 2015:43(Database issue) | 462 Citations (from Europe PMC, 2021-01-16)
21472891
A new face and new challenges for Online Mendelian Inheritance in Man (OMIM®). [PMID: 21472891]
Amberger J, Bocchini C, Hamosh A.

OMIM's task of cataloging the association between human phenotypes and their causative genes (the Morbid Map of the Genome) and classifying and naming newly recognized disorders is growing rapidly. Establishing the relationship between genotype and phenotype has become increasingly complex. New technologies such as genome-wide association studies (GWAS) and array comparative genomic hybridization (aCGH) define "risk alleles" that are inherently prone to substantial interpretation and modification. In addition, whole exome and genome sequencing are expected to result in many reports of new mendelian disorders and their causative genes. In preparation for the onslaught of new information, we have launched a new Website to allow a more comprehensive and structured view of the contents of OMIM and to improve interconnectivity with complementary clinical and basic science genetics resources. This article focuses on the content of OMIM, the process and intent of disease classification and nosology, and anticipated improvements in our new Website (http://www.omim.org). © 2011 Wiley-Liss, Inc.

Hum Mutat. 2011:32(5) | 196 Citations (from Europe PMC, 2021-01-16)
18842627
McKusick's Online Mendelian Inheritance in Man (OMIM). [PMID: 18842627]
Amberger J, Bocchini CA, Scott AF, Hamosh A.

McKusick's Online Mendelian Inheritance in Man (OMIM; http://www.ncbi.nlm.nih.gov/omim), a knowledgebase of human genes and phenotypes, was originally published as a book, Mendelian Inheritance in Man, in 1966. The content of OMIM is derived exclusively from the published biomedical literature and is updated daily. It currently contains 18,961 full-text entries describing phenotypes and genes. To date, 2239 genes have mutations causing disease, and 3770 diseases have a molecular basis. Approximately 70 new entries are added and 700 entries are updated per month. OMIM is expanding content and organization in response to shifting biological paradigms and advancing biotechnology.

Nucleic Acids Res. 2009:37(Database issue) | 362 Citations (from Europe PMC, 2021-01-16)
17357067
Mendelian Inheritance in Man and its online version, OMIM. [PMID: 17357067]
McKusick VA.
Am J Hum Genet. 2007:80(4) | 285 Citations (from Europe PMC, 2021-01-16)
15608251
Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders. [PMID: 15608251]
Hamosh A, Scott AF, Amberger JS, Bocchini CA, McKusick VA.

Online Mendelian Inheritance in Man (OMIM) is a comprehensive, authoritative and timely knowledgebase of human genes and genetic disorders compiled to support human genetics research and education and the practice of clinical genetics. Started by Dr Victor A. McKusick as the definitive reference Mendelian Inheritance in Man, OMIM (http://www.ncbi.nlm.nih.gov/omim/) is now distributed electronically by the National Center for Biotechnology Information, where it is integrated with the Entrez suite of databases. Derived from the biomedical literature, OMIM is written and edited at Johns Hopkins University with input from scientists and physicians around the world. Each OMIM entry has a full-text summary of a genetically determined phenotype and/or gene and has numerous links to other genetic databases such as DNA and protein sequence, PubMed references, general and locus-specific mutation databases, HUGO nomenclature, MapViewer, GeneTests, patient support groups and many others. OMIM is an easy and straightforward portal to the burgeoning information in human genetics.

Nucleic Acids Res. 2005:33(Database issue) | 1044 Citations (from Europe PMC, 2021-01-16)
11752252
Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders. [PMID: 11752252]
Hamosh A, Scott AF, Amberger J, Bocchini C, Valle D, McKusick VA.

Online Mendelian Inheritance in Man (OMIM) is a comprehensive, authoritative and timely knowledgebase of human genes and genetic disorders compiled to support research and education in human genomics and the practice of clinical genetics. Started by Dr Victor A. McKusick as the definitive reference Mendelian Inheritance in Man, OMIM (www.ncbi.nlm.nih.gov/omim) is now distributed electronically by the National Center for Biotechnology Information (NCBI), where it is integrated with the Entrez suite of databases. Derived from the biomedical literature, OMIM is written and edited at Johns Hopkins University with input from scientists and physicians around the world. Each OMIM entry has a full-text summary of a genetically determined phenotype and/or gene and has numerous links to other genetic databases such as DNA and protein sequence, PubMed references, general and locus-specific mutation databases, approved gene nomenclature, and the highly detailed mapviewer, as well as patient support groups and many others. OMIM is an easy and straightforward portal to the burgeoning information in human genetics.

Nucleic Acids Res. 2002:30(1) | 276 Citations (from Europe PMC, 2021-01-16)
10612823
Online Mendelian Inheritance in Man (OMIM). [PMID: 10612823]
Hamosh A, Scott AF, Amberger J, Valle D, McKusick VA.

Online Mendelian Inheritance In Man (OMIM) is a public database of bibliographic information about human genes and genetic disorders. Begun by Dr. Victor McKusick as the authoritative reference Mendelian Inheritance in Man, it is now distributed electronically by the National Center for Biotechnology Information (NCBI). Material in OMIM is derived from the biomedical literature and is written by Dr. McKusick and his colleagues at Johns Hopkins University and elsewhere. Each OMIM entry has a full text summary of a genetic phenotype and/or gene and has copious links to other genetic resources such as DNA and protein sequence, PubMed references, mutation databases, approved gene nomenclature, and more. In addition, NCBI's neighboring feature allows users to identify related articles from PubMed selected on the basis of key words in the OMIM entry. Through its many features, OMIM is increasingly becoming a major gateway for clinicians, students, and basic researchers to the ever-growing literature and resources of human genetics. Copyright 2000 Wiley-Liss, Inc.

Hum Mutat. 2000:15(1) | 159 Citations (from Europe PMC, 2021-01-16)

Ranking

All databases:
61/4728 (98.731%)
Health and medicine:
10/978 (99.08%)
Genotype phenotype and variation:
13/659 (98.179%)
61
Total Rank
2,784
Citations
132.571
z-index

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Record metadata

Created on: 2015-06-20
Curated by:
Lina Ma [2019-06-17]
Lina Ma [2016-08-15]
Lina Ma [2016-08-12]
Lina Ma [2016-07-25]
Zhang Zhang [2016-04-26]
Lina Ma [2016-03-28]
Lin Liu [2016-03-28]
Mengwei Li [2016-02-18]
Lina Ma [2016-01-05]
Li Yang [2015-11-24]
Li Yang [2015-06-26]