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 nucleotide-sugar biosynthesis'  (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]

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

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