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 multiple glycosylation and other pathways'  (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 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]

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

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