Skeletome - A Curated Online Knowledge Base Integrating Clinical and Biological Information on Skeletal Dysplasias and Related Conditions

Abstract:: Skeletal dysplasias are a heterogeneous group of genetic disorders affecting skeletal development. They affect up to 10,000 children and adults in Australia and 4,000,000 patients worldwide suffer from one of these debilitating disorders. Molecular genetic research on skeletal dysplasias has advanced considerably over the years. However, the lack of a comprehensive information respository about skeletal dysplasias hinders collaborative research and diagnosis in this area. This project aims at creating an online, expert-curated, community-driven knowledge base that uses Semantic Web technologies to integrate information about skeletal dysplasias, including molecular genetic causes, clinical features, diagnosis and management information. e that uses Semantic Web technologies
Grant type:: ARC Linkage Projects
Funded by:: Australian Research Council

The University of Queensland