Legend:

• Concept Types
  • target (pathway-based classification term)
  • classification term
  • pathway-based classification term
  • clinical findings
  • multiple types disease
  • single disease
  • disease type

• Congenital, Hereditary, and Neonatal Diseases and Abnormalities related to Glycans
  • Genetic Diseases, Inborn
    • Metabolism, Inborn Errors
      • Carbohydrate Metabolism, Inborn Errors (synthesis)
        • Pathogenesis
          • Genetic disorders of glycan synthesis (traditional nomenclature)
            • Defects in glycolipid synthesis
              • Defects in GSL synthesis
                • Amish infantile epilepsy syndrome [SIAT9]
          • Genetic disorders of glycan synthesis (new nomenclature)
            • Congenital disorders of glycosylation (CDGs)
              • Defects in glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation
                • Disorders of glycosphingolipid biosynthesis
                  • ST3GAL5-CDG [SIAT9]