MedGen

MedGen is NCBI's portal to information about conditions and phenotypes related to Medical Genetics. Terms from the NIH Genetic Testing Registry (GTR), UMLS, HPO, Orphanet, ClinVar and other sources are aggregated into concepts, each of which is assigned a unique identifier and a preferred name and symbol. The core content of the record may include names, identifiers used by other databases, mode of inheritance, clinical features, and map location of the loci affecting the disorder. The concept identifier (CUI) is used to aggregate information about that concept, similar to the way NCBI Gene serves as a gateway to gene-related information.

MedGen provides links to such resources as: Genetic tests registered in the NIH Genetic Testing Registry (GTR), GeneReviews, ClinVar, OMIM, Related genes, Disorders with similar clinical features, Medical and research literature, Practice guidelines, Consumer resources, Ontologies such as HPO and ORDO.

Links to the GTR, GeneReviews, and Practice Guidelines are based on curation by NCBI staff. Other data feeds are automated, but reviewed by NCBI staff and informed by feedback from the community.

MedGen是NCBI（美国国立生物技术信息中心）提供的关于医学遗传学相关疾病和表型的信息门户。该平台汇集了来自NIH遗传检测注册库（GTR）、UMLS、HPO、Orphanet、ClinVar以及其他来源的术语，并将这些术语归入概念中，每个概念均被赋予一个唯一的标识符、一个首选名称和符号。记录的核心内容可能包括名称、其他数据库使用的标识符、遗传模式、临床特征以及影响该疾病的位点的映射位置。概念标识符（CUI）用于汇总有关该概念的信息，类似于NCBI Gene作为基因相关信息的入口。MedGen提供了链接到如下资源：注册在NIH遗传检测注册库（GTR）中的遗传检测、GeneReviews、ClinVar、OMIM、相关基因、具有相似临床特征的疾病、医学和科研文献、实践指南、消费者资源、如HPO和ORDO等本体。至GTR、GeneReviews和实践指南的链接均基于NCBI工作人员的编纂。其他数据流是自动化的，但经过NCBI工作人员的审核，并受到社区反馈的指导。