Legend:

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

'Muscular 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
    • Musculoskeletal Diseases
      • Muscular Diseases
        • Muscle Spasticity
          • POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
        • Muscle Weakness
          • PMM2-CDG (GDGDB) [PMM2]
            • PMM2-CDG, infantile multisystem stage [PMM2]
          • B4GALT1-CDG (GDGDB) [B4GALT1]
          • 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]
          • Hereditary inclusion body myopathy type 2 [GNE]
          • Nonaka myopathy (GDGDB) [GNE]
          • Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
          • DPM3-CDG [DPM3]
          • TMEM165-CDG [TMEM165]
          • Myasthenia, congenital, with tubular aggregates 1 [GFPT1]
          • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
        • 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]
        • DPM3-CDG [DPM3]
    • Nervous System Diseases
      • Neuromuscular Diseases
        • 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]