Legend:

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

'Other CDGs'  (Integration tree)

Pathogenesis (traditional nomenclature)

• Genetic disorders of glycan synthesis (traditional nomenclature)
  • Defects in N-glycan biosynthesis
    • Disorders of N-linked glycosylation - Congenital disorders of glycosylation (CDGs)
      • Other CDGs
        • Oligosaccharyltransferase TUSC3 subunit defect [TUSC3]
        • V-ATPase a2 subunit defect [ATP6V0A2]

Pathogenesis (new nomenclature)

• Genetic disorders of glycan synthesis (new nomenclature)

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

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