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
              • Eye Diseases
                • Refractive Errors
                  • Hyperopia
                    • ALG6-CDG (GDGDB) [ALG6]
                  • Myopia
                    • PMM2-CDG (GDGDB) [PMM2]
                      • PMM2-CDG, late-infantile and childhood ataxia-intellectual disability stage [PMM2]
                    • 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]
                    • Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
                    • Lysyl hydroxylase 3 deficiency (GDGDB) [PLOD3]
                    • Ehlers-Danlos syndrome, musculocontractural type [CHST14]