Legend:

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

'Neuromuscular Diseases'  (Integration tree)

Pathogenesis (traditional nomenclature)

• Genetic disorders of glycan synthesis (traditional nomenclature)

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)
  • Diseases
    • Nervous System Diseases
      • Neuromuscular Diseases
        • Peripheral Nervous System Diseases
          • Nerve Compression Syndromes
            • EXT1/EXT2-CDG [EXT1,EXT2]
          • Polyneuropathy
            • 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]
            • DPM1-CDG (GDGDB) [DPM1]
            • COG8-CDG [COG8]
            • Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
        • Muscular Diseases
          • Muscular Disorders, Atrophic
            • Muscular Dystrophies
              • POMT1/POMT2-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMT1,POMT2]
              • POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
              • Fukuyama congenital muscular dystrophy (GDGDB) [FKTN]
              • Muscular dystrophy, limb-girdle, type 2M (GDGDB) [FKTN]
              • Cardiomyopathy, dilated, 1X (GDGDB) [FKTN]
              • Muscular dystrophy, congenital, type 1C (GDGDB) [FKRP]
              • Muscular dystrophy, limb-girdle, type 2I (GDGDB) [FKRP]
              • LARGE-CDG (cong. muscular dystrophy spectrum) [LARGE]
              • Duchenne muscular dystrophy [DMD]