Legend:

• Concept Types
  • target (clinical findings)
  • 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)
        • Hereditary disorders by systems
          • Genetic disorders of glycan synthesis (by systems, signs and symptoms)
            • Diseases
              • Nervous System Diseases
                • Neurologic Manifestations
                  • Neuromuscular Manifestations
                    • 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]
      • Lysosomal Storage Diseases (degradation)
        • Hereditary disorders by systems
          • Genetic disorders of glycan degradation (by systems, signs and symptoms)
            • Diseases
              • Nervous System Diseases
                • Neurologic Manifestations
                  • Neuromuscular Manifestations
                    • Muscular Atrophy
                      • Metachromatic leukodystrophy (GDGDB) [ARSA]
                      • Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]