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 multiple glycosylation and other pathways
                • DPM1-CDG (GDGDB) [DPM1]
                • MPDU1-CDG (GDGDB) [MPDU1]
                • B4GALT1-CDG (GDGDB) [B4GALT1]
                • GNE-CDG (hereditary inclusion body myopathy)
                  • Hereditary inclusion body myopathy type 2 [GNE]
                  • Nonaka myopathy (GDGDB) [GNE]
                • Defects in dolichol biosynthesis
                  • DOLK-CDG [TMEM15]
                  • SRD5A3-CDG [SRD5A3]
                • Mental retardation, autosomal recessive 12 [ST3GAL3]
                • Defects in nucleotide-sugar transport
                  • SLC35C1-CDG (GDGDB) [SLC35C1]
                  • SLC35A1-CDG [SLC35A1]
                  • SLC35D1-CDG [SLC35D1]
                • Defects in vesicular transport
                  • SEC23B-CDG (GDGDB) [SEC23B]
                  • Defects in COG protein complex
                    • COG7-CDG (GDGDB) [COG7]
                    • COG1-CDG [COG1]
                    • COG8-CDG [COG8]
                    • COG5-CDG [COG5]
                    • COG4-CDG [COG4]
                    • COG6-CDG [COG6]
                  • Defect in V-ATPase a2 subunit
                    • ATP6VOA2-CDG [ATP6V0A2]