Legend:

• Concept Types
  • target (pathway-based classification term)
  • classification term
  • pathway-based classification term
  • clinical findings
  • multiple types disease
  • single disease
  • disease type

'Disorders of N-linked glycosylation - Congenital disorders of glycosylation (CDGs)'  (Integration tree)

Pathogenesis (traditional nomenclature)

• 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]

Pathogenesis (new nomenclature)

• Genetic disorders of glycan synthesis (new nomenclature)

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

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