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Database Commons - OMIM

OMIM

Citations: 3217

z-index 32.17

Short name OMIM
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.
URL http://www.omim.org/
Year founded 1985
Last update & version 2016-08-13    
Availability Free to academic users only
University/Institution hosted Johns Hopkins University
Address Baltimore, MD 21287,USA
City Baltimore
Province/State MD
Country/Region United States
Contact name Joanna S. Amberger
Contact email joanna@peas.welch.jhu.edu
Data type(s)
Major organism(s)
Keyword(s)
  • genetic disorder
  • mendelian inheritance
Publication(s)
  • OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders. [PMID: 25428349]

    Joanna S Amberger, Carol A Bocchini, François Schiettecatte, Alan F Scott, Ada Hamosh
    Nucleic acids research 2015:43(Database issue)
    76 Citations (Google Scholar as of 2016-03-28)

    Abstract: 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.

  • A new face and new challenges for Online Mendelian Inheritance in Man (OMIM®). [PMID: 21472891]

    Joanna Amberger, Carol Bocchini, Ada Hamosh
    Human mutation 2011:32(5)
    211 Citations (Google Scholar as of 2016-08-12)

    Abstract: 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.

  • McKusick's Online Mendelian Inheritance in Man (OMIM). [PMID: 18842627]

    Joanna Amberger, Carol A Bocchini, Alan F Scott, Ada Hamosh
    Nucleic acids research 2009:37(Database issue)
    492 Citations (Google Scholar as of 2016-08-12)

    Abstract: 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.

  • Mendelian Inheritance in Man and its online version, OMIM. [PMID: 17357067]

    Victor A McKusick
    American journal of human genetics 2007:80(4)
    432 Citations (Google Scholar as of 2016-08-12)

    Abstract:

  • Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders. [PMID: 15608251]

    Ada Hamosh, Alan F Scott, Joanna S Amberger, Carol A Bocchini, Victor A McKusick
    Nucleic acids research 2005:33(Database issue)
    1316 Citations (Google Scholar as of 2016-08-12)

    Abstract: 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.

  • Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders. [PMID: 11752252]

    Ada Hamosh, Alan F Scott, Joanna Amberger, Carol Bocchini, David Valle, Victor A McKusick
    Nucleic acids research 2002:30(1)
    442 Citations (Google Scholar as of 2016-08-12)

    Abstract: 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.

  • Online Mendelian Inheritance in Man (OMIM). [PMID: 10612823]

    A Hamosh, A F Scott, J Amberger, D Valle, V A McKusick
    Human mutation 2000:15(1)
    248 Citations (Google Scholar as of 2016-08-12)

    Abstract: 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.

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Tags

Disease Phenotype
Homo sapiens
genetic disorder mendelian inheritance

Record metadata

  • Created on: 2015-06-20
  • Curated by:
    • 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]
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