Hamosh Ada, Scott Alan F, Amberger Joanna, Bocchini Carol, Valle David, McKusick Victor A
McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, 600 N. Wolfe Street, Blalock 1007, Baltimore, MD 21287-4922, USA.
Nucleic Acids Res. 2002 Jan 1;30(1):52-5. doi: 10.1093/nar/30.1.52.
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.
《人类孟德尔遗传在线》（OMIM）是一个全面、权威且及时更新的人类基因和遗传疾病知识库，旨在支持人类基因组学研究与教育以及临床遗传学实践。由维克多·A·麦库西克博士创建，最初作为权威性参考文献《人类孟德尔遗传》，OMIM（www.ncbi.nlm.nih.gov/omim）现由美国国立生物技术信息中心（NCBI）以电子方式发布，并与Entrez数据库套件整合。OMIM源自生物医学文献，由约翰·霍普金斯大学编写和编辑，全球科学家和医生均有参与。每个OMIM条目都包含一个由基因决定的表型和/或基因的全文摘要，并与其他遗传数据库有众多链接，如DNA和蛋白质序列、PubMed参考文献、通用和位点特异性突变数据库、批准的基因命名法以及高度详细的地图浏览器，还有患者支持小组等诸多内容。OMIM是获取人类遗传学中迅速增长信息的便捷且直接的门户。
