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 (traditional nomenclature)
            • Defects in N-glycan biosynthesis
              • Disorders of N-linked glycosylation - Congenital disorders of glycosylation (CDGs)
                • Type I CDGs
                  • CDG-Ia (GDGDB) [PMM2]
                    • CDG-Ia, infantile multisystem stage [PMM2]
                    • CDG-Ia, late-infantile and childhood ataxia-intellectual disability stage [PMM2]
                    • CDG-Ia, adult stable disability stage [PMM2]
                  • CDG-Ib (GDGDB) [MPI]
                  • CDG-Ic (GDGDB) [ALG6]
                  • CDG-Id (GDGDB) [ALG3]
                  • CDG-Ie (GDGDB) [DPM1]
                  • CDG-If (GDGDB) [MPDU1]
                  • CDG-Ig (GDGDB) [ALG12]
                  • CDG-Ih (GDGDB) [ALG8]
                  • CDG-Ii (GDGDB) [ALG2]
                  • CDG-Ij (GDGDB) [DPAGT1]
                  • CDG-Ik (GDGDB) [ALG1]
                  • CDG-IL (GDGDB) [ALG9]
                  • CDG-Im [TMEM15]
                  • CDG-In [RFT1]
                • Type II CDGs
                  • CDG-IIa (GDGDB) [MGAT2]
                  • CDG-IIb (GDGDB) [GCS1]
                  • CDG-IIc (GDGDB) [SLC35C1]
                  • CDG-IId (GDGDB) [B4GALT1]
                  • CDG-IIe (GDGDB) [COG7]
                  • CDG-IIf [SLC35A1]
                  • CDG-IIg [COG1]
                  • CDG-IIh [COG8]
                  • CDG-IIi [COG5]
                  • CDG-IIj [COG4]
                • Other CDGs
                  • Oligosaccharyltransferase TUSC3 subunit defect [TUSC3]
                  • V-ATPase a2 subunit defect [ATP6V0A2]
              • Other disorders that affect N-glycans
                • Congenital dyserythropoietic anaemia, type II (GDGDB) [SEC23B]