Legend:

• Concept Types

• 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
                • Eye Diseases, Hereditary
                  • Optic Atrophies, Hereditary
                    • ALG3-CDG (GDGDB) [ALG3]
                    • POMT1/POMT2-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMT1,POMT2]
                    • POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
                    • Fukuyama congenital muscular dystrophy (GDGDB) [FKTN]
                    • ST3GAL5-CDG [SIAT9]
                    • SRD5A3-CDG [SRD5A3]
                    • ALG13-CDG [ALG13]
                • Optic Nerve Diseases
                  • Optic Atrophy
                    • Optic Atrophies, Hereditary
                      • ALG3-CDG (GDGDB) [ALG3]
                      • POMT1/POMT2-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMT1,POMT2]
                      • POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
                      • Fukuyama congenital muscular dystrophy (GDGDB) [FKTN]
                      • ST3GAL5-CDG [SIAT9]
                      • SRD5A3-CDG [SRD5A3]
                      • ALG13-CDG [ALG13]
              • Nervous System Diseases
                • Cranial Nerve Diseases
                  • Optic Nerve Diseases
                    • Optic Atrophy
                      • Optic Atrophies, Hereditary
                        • ALG3-CDG (GDGDB) [ALG3]
                        • POMT1/POMT2-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMT1,POMT2]
                        • POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
                        • Fukuyama congenital muscular dystrophy (GDGDB) [FKTN]
                        • ST3GAL5-CDG [SIAT9]
                        • SRD5A3-CDG [SRD5A3]
                        • ALG13-CDG [ALG13]
      • Lysosomal Storage Diseases (degradation)
        • Hereditary disorders by systems
          • Genetic disorders of glycan degradation (by systems, signs and symptoms)
            • Diseases
              • Eye Diseases
                • Optic Nerve Diseases
                  • Optic Atrophy
                    • Optic Atrophies, Hereditary
                      • Combined saposin deficiency (GDGDB) [PSAP]