Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders

被引：436

作者：

Hamosh, A ^{[1
]}

Scott, AF ^{[1
]}

Amberger, J ^{[1
]}

Bocchini, C ^{[1
]}

Valle, D ^{[1
]}

McKusick, VA ^{[1
]}

机构：

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

来源：

NUCLEIC ACIDS RESEARCH | 2002年 / 30卷 / 01期

关键词：

D O I：

10.1093/nar/30.1.52

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(TM)) 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 referenceMendelian 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.

引用

页码：52 / 55

页数：4