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
                • 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]
      • Lysosomal Storage Diseases (degradation)
        • Hereditary disorders by systems
          • Genetic disorders of glycan degradation (by systems, signs and symptoms)
            • Diseases
              • Nervous System Diseases
                • Neuromuscular Diseases
                  • Peripheral Nervous System Diseases
                    • Mononeuropathies
                      • Median Neuropathy
                        • Carpal Tunnel Syndrome
                          • Hurler syndrome (GDGDB) [IDUA]
                          • Hurler-Scheie syndrome (GDGDB) [IDUA]
                          • Scheie syndrome (GDGDB) [IDUA]
                          • Mucopolysaccharidosis II (GDGDB) [IDS]
                          • Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
                          • Mucopolysaccharidosis VII (GDGDB) [GUSB]
                    • Nerve Compression Syndromes
                      • Carpal Tunnel Syndrome
                        • Hurler syndrome (GDGDB) [IDUA]
                        • Hurler-Scheie syndrome (GDGDB) [IDUA]
                        • Scheie syndrome (GDGDB) [IDUA]
                        • Mucopolysaccharidosis II (GDGDB) [IDS]
                        • Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
                        • Mucopolysaccharidosis VII (GDGDB) [GUSB]
                    • Beta-mannosidosis (GDGDB) [MANBA]
                    • Tay-Sachs disease (GDGDB) [HEXA]
                    • Fabry disease (GDGDB) [GLA]
                    • Krabbe disease (GDGDB) [GALC]
                    • Metachromatic leukodystrophy (GDGDB) [ARSA]
                    • Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]