OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders

被引：1614

作者：

Amberger, Joanna S. ^{[1
]}

Bocchini, Carol A. ^{[1
]}

Schiettecatte, Francois ^{[2
]}

Scott, Alan F. ^{[1
]}

Hamosh, Ada ^{[1
]}

机构：

[1] Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD 21287 USA

[2] FS Consulting LLC, Salem, MA 01970 USA

来源：

NUCLEIC ACIDS RESEARCH | 2015年 / 43卷 / D1期

关键词：

HUMAN PHENOTYPE; DISEASE; TOOL;

D O I：

10.1093/nar/gku1205

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Online Mendelian Inheritance in Man, OMIM (R), 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.

引用

页码：D789 / D798

页数：10

共 13 条

[1] Elements of Morphology: Introduction [J].

Allanson, Judith E. ;

Biesecker, Leslie G. ;

Carey, John C. ;

Hennekam, Raoul C. M. .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2009, 149A (01) :2-5

[2] A New Face and New Challenges for Online Mendelian Inheritance in Man (OMIM®) [J].

Amberger, Joanna ;

Bocchini, Carol ;

Hamosh, Ada .

HUMAN MUTATION, 2011, 32 (05) :564-567

[3] The Unified Medical Language System (UMLS): integrating biomedical terminology [J].

Bodenreider, O .

NUCLEIC ACIDS RESEARCH, 2004, 32 :D267-D270

[4]

Cornet R, 2009, METHOD INFORM MED, V48, P178, DOI [me10.3414/ME9215, 10.3414/ME9215]

[5] Forty years of SNOMED: a literature review [J].

Cornet, Ronald ;

de Keizer, Nicolette .

BMC MEDICAL INFORMATICS AND DECISION MAKING, 2008, 8 (Suppl 1)

[6] PhenoDB: A New Web-Based Tool for the Collection, Storage, and Analysis of Phenotypic Features [J].

Hamosh, Ada ;

Sobreira, Nara ;

Hoover-Fong, Julie ;

Sutton, V. Reid ;

Boehm, Corinne ;

Schiettecatte, Francois ;

Valle, David .

HUMAN MUTATION, 2013, 34 (04) :566-571

[7] The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data [J].

Koehler, Sebastian ;

Doelken, Sandra C. ;

Mungall, Christopher J. ;

Bauer, Sebastian ;

Firth, Helen V. ;

Bailleul-Forestier, Isabelle ;

Black, Graeme C. M. ;

Brown, Danielle L. ;

Brudno, Michael ;

Campbell, Jennifer ;

FitzPatrick, David R. ;

Eppig, Janan T. ;

Jackson, Andrew P. ;

Freson, Kathleen ;

Girdea, Marta ;

Helbig, Ingo ;

Hurst, Jane A. ;

Jaehn, Johanna ;

Jackson, Laird G. ;

Kelly, Anne M. ;

Ledbetter, David H. ;

Mansour, Sahar ;

Martin, Christa L. ;

Moss, Celia ;

Mumford, Andrew ;

Ouwehand, Willem H. ;

Park, Soo-Mi ;

Riggs, Erin Rooney ;

Scott, Richard H. ;

Sisodiya, Sanjay ;

Van Vooren, Steven ;

Wapner, Ronald J. ;

Wilkie, Andrew O. M. ;

Wright, Caroline F. ;

Vulto-van Silfhout, Anneke T. ;

de Leeuw, Nicole ;

de Vries, Bert B. A. ;

Washingthon, Nicole L. ;

Smith, Cynthia L. ;

Westerfield, Monte ;

Schofield, Paul ;

Ruef, Barbara J. ;

Gkoutos, Georgios V. ;

Haendel, Melissa ;

Smedley, Damian ;

Lewis, Suzanna E. ;

Robinson, Peter N. .

NUCLEIC ACIDS RESEARCH, 2014, 42 (D1) :D966-D974

[8] ClinVar: public archive of relationships among sequence variation and human phenotype [J].

Landrum, Melissa J. ;

Lee, Jennifer M. ;

Riley, George R. ;

Jang, Wonhee ;

Rubinstein, Wendy S. ;

Church, Deanna M. ;

Maglott, Donna R. .

NUCLEIC ACIDS RESEARCH, 2014, 42 (D1) :D980-D985

[9]

McKusick VA, 1998, MENDELIAN INHERITANC

[10]

NCBI Resource Coordinators, 2014, NUCL ACIDS RES, V42, pD7

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