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 nucleotide-sugar biosynthesis
                  • PMM2-CDG (GDGDB) [PMM2]
                    • PMM2-CDG, infantile multisystem stage [PMM2]
                    • PMM2-CDG, late-infantile and childhood ataxia-intellectual disability stage [PMM2]
                    • PMM2-CDG, adult stable disability stage [PMM2]
                  • MPI-CDG (GDGDB) [MPI]
                  • PGM1-CDG [PGM1]
                  • Myasthenia, congenital, with tubular aggregates 1 [GFPT1]
                • Defects in lipid-linked oligosaccharide biosynthesis
                  • ALG6-CDG (GDGDB) [ALG6]
                  • ALG3-CDG (GDGDB) [ALG3]
                  • ALG12-CDG (GDGDB) [ALG12]
                  • ALG8-CDG (GDGDB) [ALG8]
                  • ALG2-CDG (GDGDB) [ALG2]
                  • DPAGT1-CDG (GDGDB) [DPAGT1]
                  • ALG1-CDG (GDGDB) [ALG1]
                  • ALG9-CDG (GDGDB) [ALG9]
                  • RFT1-CDG [RFT1]
                  • DPM3-CDG [DPM3]
                  • ALG11-CDG [ALG11]
                  • ALG13-CDG [ALG13]
                • 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]