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IEMbase是一个关于遗传性代谢疾病(IEMs)的知识库,收录了2,045种疾病信息。该数据库提供疾病分类、诊断范围、复杂搜索和详细报告功能,旨在为遗传性代谢疾病的准确及时诊断提供支持。IEMbase结合了专家资源和本体论,包括人类表型本体等标准化词汇,构建了在线知识库和智能系统。

IEMbase is a knowledge base dedicated to inherited metabolic disorders (IEMs), housing information for 2,045 distinct diseases. The database provides functionalities such as disease classification, diagnostic range, advanced search, and detailed report generation, with the goal of supporting accurate and timely diagnosis of inherited metabolic disorders. By integrating expert resources and ontologies that employ standardized vocabularies including the Human Phenotype Ontology, IEMbase constructs an online knowledge base and intelligent system.

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