Baxevanis Andreas D
Bethesda, Maryland.
Curr Protoc Hum Genet. 2012 Apr;Chapter 9:9.13.1-9.13.10. doi: 10.1002/0471142905.hg0913s73.
Online Mendelian Inheritance in Man (OMIM) is a comprehensive compendium of information on human genes and genetic disorders, with a particular emphasis on the interplay between observed phenotypes and underlying genotypes. This unit focuses on the basic methodology for formulating OMIM searches and illustrates the types of information that can be retrieved from OMIM, including descriptions of clinical manifestations resulting from genetic abnormalities. This unit also provides information on additional relevant medical and molecular biology databases. A basic knowledge of OMIM should be part of the armamentarium of physicians and scientists with an interest in research on the clinical aspects of genetic disorders.
《人类孟德尔遗传在线》（OMIM）是关于人类基因和遗传疾病的全面信息汇编，特别强调观察到的表型与潜在基因型之间的相互作用。本单元重点介绍制定OMIM搜索的基本方法，并说明可从OMIM检索到的信息类型，包括对遗传异常导致的临床表现的描述。本单元还提供有关其他相关医学和分子生物学数据库的信息。对于对遗传疾病临床方面研究感兴趣的医生和科学家而言，对OMIM的基本知识应是其知识储备的一部分。
