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 (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]