Towards a Disease Ontology

The search for new mouse models of human disease has recently driven the funding of high throughput, large scale mutagenesis programmes throughout the world. As part of the attempt to deal with the data deluge resulting from these approaches together with existing hypothesis driven mouse genetics, there has been much discussion of the coding of mouse and human disease phenotypes in a way which lends itself to computer analysis, and the generation of new informatics tools. This chapter addresses current approaches to the development of a disease ontology or description framework, and critically assesses the requirements and potential solutions to the problems inherent in such an enterprise.