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Updated: May 16, 2025

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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Published on: August 15, 2019

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人类现象型本体学 对于罕见的先天性疾病的注释:适用于关节形复合先天性病的应用

Shahrzad Nematollahi1,2, Reggie C Hamdy3,4, Harold van Bosse5

  • 1School of Physical and Occupational Therapy, McGill University, Montreal, Québec, Canada.

American journal of medical genetics. Part A
|April 3, 2025
PubMed
概括

这项研究通过将表型特征映射到人类表型本体学 (HPO) 术语,标准化了Arthrogryposis multiplex congenita (AMC) 数据收集. 这提高了AMC联合合同的HPO期限可用性,帮助未来的研究.

关键词:
关节结症多重性先天性诊断支持 诊断支持人类现象型的本体学.在本体论上,本体论是存在的.患者匹配的患者匹配.罕见的疾病 罕见的疾病登记处 登记处 登记处 登记处

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