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《人类孟德尔遗传在线》(OMIM),一个关于人类基因和遗传疾病的知识库。

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

作者信息

Hamosh Ada, Scott Alan F, Amberger Joanna S, Bocchini Carol A, McKusick Victor A

出版信息

Nucleic Acids Res. 2005 Jan 1;33(Database issue):D514-7. doi: 10.1093/nar/gki033.

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.

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6606/539987/267595a14f3f/gki033f1.jpg

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