Legend:

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

'Mobility Limitation'  (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
    • Pathological Conditions, Signs and Symptoms
      • Signs and Symptoms
        • Mobility Limitation
          • PMM2-CDG (GDGDB) [PMM2]
            • PMM2-CDG, late-infantile and childhood ataxia-intellectual disability stage [PMM2]
            • PMM2-CDG, adult stable disability stage [PMM2]
          • ALG6-CDG (GDGDB) [ALG6]
          • 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]
          • EXT1/EXT2-CDG [EXT1,EXT2]
          • Diastrophic dysplasia [SLC26A2]
          • Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
          • ST3GAL5-CDG [SIAT9]
          • DPM3-CDG [DPM3]
          • Spondyloepiphyseal dysplasia with congenital joint dislocations [CHST3]
          • Hyperphosphatasia with mental retardation syndrome 1 [PIGV]