Online Mendelian Inheritance in Man (OMIM)

描述（由申请人提供）：在线孟德尔遗传在人类（OMIM.）是一个遗传疾病和基因的知识库。最初由Victor McKusick博士于1966年创建，作为人类的孟德尔遗传，OMIM自1987年以来一直在互联网/网络上免费提供。2010年12月，由约翰霍普金斯大学资助的omim.org上线，由UCSC基因组信息学托管。OMIM是临床遗传学家和分子生物学、遗传学和基因组学研究人员的首要资源。通过对7000多种疾病和13600多个基因的详细描述，OMIM对人类表型变异的描述具有无与伦比的广度和丰富性。OMIM的稳定性和权威性是国际公认的，并且大多数人类遗传学期刊都需要MIM数字。每天有成千上万的用户从世界各地访问OMIM。OMIM包括人类基因组病态图谱，它将人类疾病（约4300种）和导致这些疾病的基因（约2500种）之间的关系编目。另外约3000种目前分子基础未知的OMIM疾病，以及尚未定义的疾病，将很快产生全基因组测序的应用。OMIM在组织和展示这一新的生物医学信息冲击方面具有独特的地位。我们计划与孟德尔测序中心合作，并作为门户网站，促进孟德尔疾病家庭的收集，并通过OMIM提供这些研究的结果。为了便于OMIM的数据挖掘，我们在OMIM条目中增加了1CD9/10和SNOMEDCT编号，并计划在OMIM临床概要的特征中增加UMLS、SNOMED、HPO等本体分类。OMIM的工作人员在该项目方面拥有丰富的经验，并提供了在阐明人类孟德尔疾病及其分类的复杂性方面至关重要的专业知识。OMIM将继续发展并为基因组医学的实践提供权威和及时的支持。

DESCRIPTION (provided by applicant): Online Mendelian Inheritance in Man (OMIM.) is a knowledgebase of genetic disorders and genes. Initially created by Dr. Victor McKusick in 1966 as Mendelian Inheritance in Man, OMIM has been freely available on the internet/web since 1987. In December 2010, omim.org, funded by Johns Hopkins University, went live, hosted by UCSC Genome Informatics. OMIM is the premier resource for clinical geneticists and for researchers in molecular biology, genetics, and genomics. With detailed descriptions of over 7,000 disorders and more than 13,600 genes, OMIM has an unparalleled breadth and richness of description of human phenotypic variation. OMIM's stability and authority are internationally recognized, and MIM numbers are required by most human genetics journals. Thousands of users access OMIM daily from around the world. OMIM includes the Morbid Map of the Human Genome, which catalogs the relationship between human disorders (~4300) and the genes (~2500) that cause them. The other ~3000 disorders in OMIM whose molecular basis is currently unknown, as well as disorders not yet defined, will quickly yield to the application of genome-wide sequencing. OMIM is uniquely positioned to organize and present this onslaught of new biomedical information. We plan to collaborate with Mendelian sequencing centers and act as a portal to facilitate the collection of families with Mendelian disorders and to make the results of those studies available through OMIM. To facilitate data mining of OMIM, we have added 1CD9/10 and SNOMEDCT numbers to OMIM entries and plan to add UMLS, SNOMED, HPO and other ontology classifications to the features of OMIM's clinical synopses. OMIM staff members have extensive experience on the project and provide expertise that is critical in elucidating the complexity of human Mendelian diseases and their classification. OMIM will continue to develop and provide authoritative and timely support to the practice of genomic medicine.