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GGDonto ontology as a knowledge-base for genetic diseases and disorders of glycan metabolism and their causative genes

Elena Solovieva, Toshihide Shikanai, Noriaki Fujita, Hisashi Narimatsu
2018 Journal of Biomedical Semantics  
Conclusions: Focused on the molecular etiology, pathogenesis, and clinical manifestations of genetic diseases and disorders of glycan metabolism and developed as a knowledge-base for this scientific field  ...  The Glyco-Disease Genes Database (GDGDB), which provides information about these diseases and disorders as well as their causative genes, has been developed by the Research Center for Medical Glycoscience  ...  Availability of data and materials The schema and data files of the GGDonto ontology are available in the NBDC RDF Portal repository (https://integbio.jp/rdf/?  ... 
doi:10.1186/s13326-018-0182-0 pmid:29669592 pmcid:PMC5905134 fatcat:pllfcncwazenlj3vkrkra7yy6e