Legend:

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

'Neuromuscular Manifestations'  (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
      • Neurologic Manifestations
        • Neuromuscular Manifestations
          • Muscle Hypertonia
            • Muscle Spasticity
              • POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
            • MPDU1-CDG (GDGDB) [MPDU1]
            • DPAGT1-CDG (GDGDB) [DPAGT1]
          • Muscle Hypotonia
            • PMM2-CDG (GDGDB) [PMM2]
              • PMM2-CDG, infantile multisystem stage [PMM2]
              • PMM2-CDG, late-infantile and childhood ataxia-intellectual disability stage [PMM2]
            • ALG6-CDG (GDGDB) [ALG6]
            • ALG3-CDG (GDGDB) [ALG3]
            • DPM1-CDG (GDGDB) [DPM1]
            • ALG12-CDG (GDGDB) [ALG12]
            • ALG8-CDG (GDGDB) [ALG8]
            • DPAGT1-CDG (GDGDB) [DPAGT1]
            • ALG1-CDG (GDGDB) [ALG1]
            • ALG9-CDG (GDGDB) [ALG9]
            • DOLK-CDG [TMEM15]
            • RFT1-CDG [RFT1]
            • GCS1-CDG (GDGDB) [GCS1]
            • SLC35C1-CDG (GDGDB) [SLC35C1]
            • B4GALT1-CDG (GDGDB) [B4GALT1]
            • COG7-CDG (GDGDB) [COG7]
            • COG1-CDG [COG1]
            • COG8-CDG [COG8]
            • COG5-CDG [COG5]
            • COG4-CDG [COG4]
            • ATP6VOA2-CDG [ATP6V0A2]
            • 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]
            • B4GALT7-CDG [B4GALT7]
            • Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
            • ST3GAL5-CDG [SIAT9]
            • ALG11-CDG [ALG11]
            • SRD5A3-CDG [SRD5A3]
            • DDOST-CDG [DDOST]
            • ALG13-CDG [ALG13]
            • TMEM165-CDG [TMEM165]
            • COG6-CDG [COG6]
            • Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects [B3GAT3]
            • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
            • Hyperphosphatasia with mental retardation syndrome 1 [PIGV]
            • Multiple congenital anomalies-hypotonia-seizures syndrome 1 [PIGN]
          • Muscular Atrophy
            • PMM2-CDG (GDGDB) [PMM2]
            • MGAT2-CDG (GDGDB) [MGAT2]
            • 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]
            • Myasthenia, congenital, with tubular aggregates 1 [GFPT1]
          • 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]