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 N-glycosylation'  (Integration tree)

Pathogenesis (traditional nomenclature)

• Genetic disorders of glycan synthesis (traditional nomenclature)

Pathogenesis (new nomenclature)

• Genetic disorders of glycan synthesis (new nomenclature)
  • Congenital disorders of glycosylation (CDGs)
    • Defects in protein N-glycosylation
      • Defects in N-glycosylation
        • TMEM165-CDG [TMEM165]
        • Defects in oligosaccharyltransferase subunits
          • TUSC3-CDG [TUSC3]
          • DDOST-CDG [DDOST]
        • Defects in N-glycan trimming
          • GCS1-CDG (GDGDB) [GCS1]
          • Mental retardation, autosomal recessive 15 [MAN1B1]
        • Defect in N-glycan branching
          • MGAT2-CDG (GDGDB) [MGAT2]

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

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