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Comparative and Functional Genomics
Volume 5 (2004), Issue 6-7, Pages 545-551
Conference paper

Ontologies for the Description of Mouse Phenotypes

1MRC Mammalian Genetics Unit, Harwell, Oxfordshire OX11 0RD, UK
2MRC Human Genetics Unit, Edinburgh, UK

Received 12 October 2004; Accepted 18 October 2004

Copyright © 2004 Hindawi Publishing Corporation. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Ontologies are becoming increasingly important for the efficient storage, retrieval and mining of biological data. The description of phenotypes using ontologies is a particularly complex problem. We outline a schema that can be used to describe phenotypes by combining orthologous axiomatic ontologies. We also describe tools for storing, browsing and searching such complex ontologies. Central to this approach is that assays (protocols for measuring phenotypic characters) describe what has been measured as well as how this was done, allowing assays to link individual organisms to ontologies describing phenotypes. We have evaluated this approach by automatically annotating data on 600 000 mutant mice phenotypes using the SHIRPA protocol. We believe this approach will enable the flexible, extensible and detailed description of phenotypes from any organism.