The Ontology of Craniofacial Development and Malformation

国家FaceBase联盟的目的是系统性收购并 集成多种形式的数据，以促进系统级的理解， 颅面畸形的原因和可能的治疗方法。一个基本的组成部分， 这种数据集成工作是一组受控的术语或关键字， 通过数据注释与数据相关联，以便通过 普通术语。此外，如果术语在本体中彼此相关，则 整合可以发生在意义层面，而不是简单地通过关键词。 作为FaceBase1的一部分，我们设计并部分实现了 颅面发育和畸形（OCDM），基于我们的基础模型 解剖学本体论（Anatomy ontology，FMA）OCDM目前由以下组件组成 代表人类和小鼠的成年和发育解剖学和畸形， 以及两种生物体中同源结构之间的映射。以来 FaceBase1的焦点是唇腭裂，本体的初始焦点是 代表的结构和发展关系，有关这些条件， 老鼠和人类。 在我们提出的工作中，我们将大大扩展OCDM，以适应以下条件： FaceBase2研究人员感兴趣的，如人类和小鼠的面部，腭， 颅穹隆发育和畸形，如颅缝早闭、面中部 发育不全、额鼻发育不良、颅面矮小和小耳畸形。这些 畸形将需要广泛的结构和发展的代表性， 头部的整个肌肉骨骼系统以及相关的软组织解剖结构 包括皮肤系统，深筋膜系统，颅脏粘膜， 脂肪组织、眼睛、耳朵、舌头、脉管系统和神经网络。此外，我们将 将关系合并并添加到Zfin本体，以反映将斑马鱼包含在 FaceBase2. OCDM的版本将在OWL 2中发布到FaceBase Hub。通过适形 对于本体最佳实践（例如OWL 2），OCDM将与其他 这些努力有助于建立链接数据的全球语义网， 知识

The purpose of the national FaceBase consortium is to systemically acquire and integrate multiple forms of data in order to facilitate a systems level understanding of the causes and possible treatments for craniofacial abnormalities. A basic component of any such data integration effort is a controlled set of terms or keywords that can be associated with the data through data annotation, so that diverse data can be related via common terms. If in addition, the terms are related to each other in an ontology, then integration can occur at the level of meaning rather than simply via keywords. As part of FaceBase1 we designed and partially implemented the Ontology of Craniofacial Development and Malformation (OCDM), based on our Foundational Model of Anatomy ontology (FMA). The OCDM currently consists of components for representing human and mouse adult and developmental anatomy and malformations, as well as mappings between homologous structures in the two organisms. Since the focus of FaceBase1 was cleft lip and palate the initial focus of the ontology was representation of structures and developmental relations relevant to these conditions in mouse and human. In our proposed work we will greatly extend the OCDM to accommodate conditions of interest to FaceBase2 researchers, such as human and mouse facial, palatal, and cranial vault development, and dysmorphology such as craniosynostosis, midface hypoplasia, frontonasal dysplasia, craniofacial microsomia and microtia. These malformations will require extensive structural and developmental representation of the entire musculoskeletal system of the head, as well as associated soft tissue anatomy that includes the integumentary system, deep fascial system, viscerocranial mucosa, adipose tissue, eyes, ears, tongue, vasculature and neural network. In addition we will incorporate and add relations to the Zfin ontology to reflect the inclusion of zebrafish in FaceBase2. Versions of the OCDM will be released to the FaceBase Hub in OWL 2. By conforming to ontology best practices such as OWL 2 the OCDM will be interoperable with other efforts that are contributing to the overall world wide semantic web of linked data and knowledge.