Mejino Jose L V, Detwiler Landon T, Cox Timothy C, Brinkley James F
Department of Biological Structure, University of Washington.
Division of Craniofacial Medicine, Department of Pediatrics, University of Washington; Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, WA, USA.
CEUR Workshop Proc. 2016 Aug;1747. Epub 2016 Nov 29.
We created the Ontology of Craniofacial Development and Malformation (OCDM) [1] to provide a unifying framework for organizing and integrating craniofacial data ranging from genes to clinical phenotypes from multi-species. Within this framework we focused on spatio-structural representation of anatomical entities related to craniofacial development and malformation, such as craniosynostosis and midface hypoplasia. Animal models are used to support human studies and so we built multi-species ontologies that would allow for cross-species correlation of anatomical information. For this purpose we first developed and enhanced the craniofacial component of the human musculoskeletal system in the Foundational Model of Anatomy Ontology (FMA)[2], and then imported this component, which we call the Craniofacial Human Ontology (CHO), into the OCDM. The CHO was then used as a template to create the anatomy for the mouse, the Craniofacial Mouse Ontology (CMO) as well as for the zebrafish, the Craniofacial Zebrafish Ontology (CZO).
我们创建了颅面发育与畸形本体论（OCDM）[1]，以提供一个统一的框架，用于组织和整合从基因到多物种临床表型的颅面数据。在此框架内，我们专注于与颅面发育和畸形相关的解剖实体的时空结构表示，如颅缝早闭和中面部发育不全。动物模型用于支持人体研究，因此我们构建了多物种本体论，以实现解剖信息的跨物种关联。为此，我们首先在解剖学本体基础模型（FMA）[2]中开发并增强了人类肌肉骨骼系统的颅面部组件，然后将这个我们称为颅面人类本体论（CHO）的组件导入OCDM。然后，CHO被用作模板来创建小鼠的解剖结构，即颅面小鼠本体论（CMO）以及斑马鱼的解剖结构，即颅面斑马鱼本体论（CZO）。
