Legend:

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

'Defects in GSL synthesis' 'Disorders of glycosphingolipid biosynthesis'  (Integration tree)

Pathogenesis (traditional nomenclature)

• Genetic disorders of glycan synthesis (traditional nomenclature)
  • Defects in glycolipid synthesis
    • Defects in GSL synthesis
      • Amish infantile epilepsy syndrome [SIAT9]

Pathogenesis (new nomenclature)

• 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]

Genetic disorders of glycan synthesis (by systems, signs and symptoms)

• Genetic disorders of glycan synthesis (by systems, signs and symptoms)