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]