The Ontology of Craniofacial Development and Malformation

国家FaceBase财团的目的是系统性地收购和 集成多种形式的数据，以促进系统级别对 颅面畸形的原因及可能的治疗方法。任何组件的基本组件 这种数据集成工作是一组受控的术语或关键字，可以 通过数据标注与数据关联，使不同的数据可以通过 通用术语。此外，如果术语在本体中彼此相关，则 整合可以在意义层面上进行，而不是简单地通过关键字。 作为FaceBase1的一部分，我们设计并部分实现了 基于我们的基本模型的颅面发育和畸形(OCDM) 解剖本体论(FMA)。OCDM目前由以下组件组成 代表人类和小鼠的成体和发育解剖及畸形， 以及两个生物体中同源结构之间的映射。自.以来 FaceBase1的焦点是唇腭裂，本体的初始焦点是 与这些情况相关的结构和发育关系的表示 老鼠和人类。 在我们拟议的工作中，我们将大大扩展OCDM，以适应以下条件 对FaceBase2研究人员感兴趣，如人类和小鼠的面部、腭部和 颅顶发育和畸形，如面中部的颅缝融合 发育不全、额鼻发育不良、头面部矮小和小耳。这些 畸形将需要广泛的结构和发育表现 头部的整个肌肉骨骼系统以及相关的软组织解剖 包括外皮系统、深筋膜系统、内脏颅骨粘膜、 脂肪组织、眼睛、耳朵、舌头、血管和神经网络。此外，我们还将 将关系合并并添加到ZFIN本体，以反映斑马鱼在 FaceBase2. OCDM的版本将发布到OWL 2中的FaceBase Hub。 对于OWL2等本体最佳实践，OCDM将与其他 正在为关联数据的整个全球语义网做出贡献的努力，以及 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.