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

机译:OMIM.org:在线孟德尔遗传(OMIM®)这是人类基因和遗传疾病的在线目录

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摘要

Online Mendelian Inheritance in Man, OMIM®, 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 (), 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.
机译:在线孟德尔遗传在人类中,OMIM ®是对人类基因和表型及其之间关系的精心描述的全面,权威和及时的研究资源。 OMIM的新官方网站OMIM.org()于2011年1月启动。OMIM基于已发表的经过同行评审的生物医学文献,并且被临床医生,分子生物学家和基因组科学家的重叠和多样化社区使用,以及这些学科的学生和老师。基因和表型在单独的条目中描述,并具有唯一的稳定六位数标识符(MIM编号)。 OMIM条目具有结构化的自由文本格式,该格式提供了以有效方式描述基因与遗传表型之间复杂而细微的关系所必需的灵活性。 OMIM还具有基因和遗传表型的衍生表Morbid Map。 OMIM.org具有增强的搜索功能,例如基因组坐标搜索和词库增强的搜索词选项。已创建表型系列,以方便查看表型的遗传异质性。 UMLS,人类表型本体论和形态学术语和图像链接增强了临床概要功能。所有OMIM数据均可通过FTP下载并通过API获得。 MIMmatch是一种新颖的外展功能,用于传播更新并鼓励协作。

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