ICBO_2018_26: Multi-species Malformation Ontologies

TitleICBO_2018_26: Multi-species Malformation Ontologies
Publication TypeConference Paper
Year of Publication2018
AuthorsMejino, JLeonardo, Detwiler, L, Cox, T, Cunningham, M, Brinkley, J
Conference NameInternational Conference on Biomedical Ontology (ICBO 2018)
Date Published08/06/2018
PublisherInternational Conference on Biological Ontology
Keywordscraniofacial, malformation, Ontology

In the Ontology of Craniofacial Development and Malformation (OCDM) [1] we created malformation ontologies for the human (Craniofacial Human Malformation Ontology [CHMO]), the mouse (Craniofacial Mouse Malformation Ontology [CMMO]) and the zebrafish (Craniofacial Zebrafish Malfomration Ontology [CZMO]) to comprehensively represent in all three species the different pathological entities involved in cranial dysmorphologies, and in particular, the phenotypic and genotypic abnormalities associated with craniofacial microsomias and their correlation to normal and canonical anatomical entities and their corresponding embryological development.