Standard terminology for phenotypic variations: the elements of morphology project, its current progress, and future directions

Human Mutation
John C CareyL G Biesecker

Abstract

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 an...Continue Reading

References

Nov 11, 2003·American Journal of Medical Genetics. Part a·Johannes H M MerksRaoul C M Hennekam
Jan 7, 2009·American Journal of Medical Genetics. Part a·Bryan D HallJohn M Opitz
Jan 7, 2009·American Journal of Medical Genetics. Part a·John C CareyAlain Verloes
Jan 7, 2009·American Journal of Medical Genetics. Part a·Leslie G BieseckerHelga Toriello
Jan 7, 2009·American Journal of Medical Genetics. Part a·Judith E AllansonGiovanni Neri
Jan 8, 2009·American Journal of Medical Genetics. Part a·Judith E AllansonRaoul C M Hennekam
Jan 20, 2009·American Journal of Medical Genetics. Part a·Alasdair HunterLouise Wilson
Jan 20, 2009·American Journal of Medical Genetics. Part a·Raoul C M HennekamRoger E Stevenson
Sep 19, 2009·American Journal of Medical Genetics. Part a·Alasdair G W HunterIan D Krantz
Jan 19, 2010·American Journal of Medical Genetics. Part a·Alasdair G Hunter
May 27, 2010·American Journal of Medical Genetics. Part a·Matthias MöhrenschlagerRoger Lauener
Jun 29, 2010·American Journal of Medical Genetics. Part a·Golder N Wilson
Apr 12, 2011·American Journal of Medical Genetics. Part a·Leslie G Biesecker, John C Carey

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Citations

Oct 4, 2012·Human Mutation·Gareth BaynamJack Goldblatt
Apr 17, 2012·Human Mutation·Peter N Robinson
Oct 22, 2013·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Timothy C CoxMichael L Cunningham
Apr 5, 2014·American Journal of Medical Genetics. Part a·Carlos F SalinasMary Fete
Oct 6, 2015·Molecular Genetics & Genomic Medicine·Timothy C Cox
Jun 3, 2015·American Journal of Medical Genetics. Part a·Hanneke BasartRaoul C Hennekam
Apr 29, 2015·American Journal of Medical Genetics. Part a·You LiCecilia W Lo
Nov 11, 2015·Nature Reviews. Genetics·Anthony J Brookes, Peter N Robinson
May 27, 2014·Frontiers in Physiology·Kathie H WangTimothy C Cox
Dec 4, 2015·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Ranad ShaheenFowzan S Alkuraya
Feb 15, 2013·PloS One·Tudor GrozaAndreas Zankl
Aug 3, 2017·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·John C Carey
Jan 9, 2020·American Journal of Medical Genetics. Part a·Gerrye MubunguKoenraad Devriendt
Mar 23, 2017·American Journal of Medical Genetics. Part a·Vanessa L Romanelli TavaresMaria Rita Passos-Bueno
Feb 27, 2013·Biomedical Informatics Insights·Tudor GrozaAndreas Zankl

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