Craniofacial Human Malformation Ontology (CHMO)

Human malformations

The CHMO contains classes describing malformations of the human head.


The CHMO provides for the representation of three distinct but associated entities, namely, pathological structure, phenotypic abnormality, and pathological process. We used canonical anatomy as the basis for classifying those entities, and ontology best practices to ensure consistency with high level classification systems, such as the Basic Formal Ontology (BFO) (1) and the Ontology of Biomedical Reality (OBR) (2).


Initial work is focused on the pathogenesis of the cleft and lip and palate.


  1. Grenon, P., Smith, B., Goldberg, L., 2004. Biodynamic ontology: applying BFO in the biomedical domain. Studies in Health Technology and Informatics 102, 20–38.
  2. Rosse, C., Kumar, A., Mejino, J.L.V., Jr, Cook, D.L., Detwiler, L.T., Smith, B., 2005. A strategy for improving and integrating biomedical ontologies. AMIA Annual Symposium Proceedings 639–643.