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Standard Terminology for Phenotypic Variations: The Elements of Morphology Project, Its Current Progress, and Future Directions

机译:表型变异的标准术语:形态学项目的要素,其当前的进展和未来的方向

摘要

In 2005, the authors of this article formed an international working group to develop standardized definitions and terms to describe the physical variations used in human phenotypic analyses. This project, which came to be known as the Elements of Morphology, resulted in six articles proposing consensus definitions for almost 400 phenotypic variations of the head and face; periorbital region; ear, nose, and philtrum; mouth and lips; and hands and feet. Every variation was accompanied by a representative figure depicting the feature. The articles were published in the January 2009 issue of the American Journal of Medical Genetics Part A and are available for free access on both the Journal's Web page and a National Institutes of Health-based site. The publication of the Elements' definitions has spawned an ongoing dialogue about the proposed terms to describe the phenotype. The working group considered the six articles as only the first step in the process, and four more articles on proposed terminology for the trunk, genital region, skin, and remainder of the limb terms are in preparation. The secondary outcome of the Elements project is the provision of a working methodology for the establishment of standardized terminology and definitions for phenotype analysis in general. Hum Mutat 33: 781-786, 2012. (C) 2012 Wiley Periodicals, Inc
机译:在2005年,本文的作者组成了一个国际工作组,以开发标准化的定义和术语来描述人类表型分析中使用的物理变异。这个项目被称为形态学元素,导致了六篇文章提出了关于头和脸的近400种表型变异的共识定义。眶周区耳朵,鼻子和发t;嘴和嘴唇;和手脚。每个变化都伴随着一个描述该特征的代表人物。这些文章发表在2009年1月的《美国医学遗传学杂志》 A部分上,可以在该杂志的网页和美国国立卫生研究院的网站上免费获得。 Elements定义的发布催生了有关拟议表述术语的持续对话。工作组认为这六篇文章只是该过程的第一步,还有四篇关于躯干,生殖器部位,皮肤和肢体其余术语的拟议术语的文章正在准备中。 Elements项目的次要结果是提供一种工作方法,用于建立标准化的术语和一般的表型分析定义。嗡嗡声突变33:781-786,2012。(C)2012 Wiley Periodicals,Inc

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