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 protein N-glycosylation'  (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 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]

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

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