Legend:

• Concept Types
  • target (pathway-based classification term)
  • 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
      • Lysosomal Storage Diseases (degradation)
        • Pathogenesis
          • Genetic disorders of glycan degradation
            • Disorders of glycoprotein metabolism
              • Defects in glycoprotein degradation
                • Aspartylglucosaminuria (GDGDB) [AGA]
                • Fucosidosis (GDGDB) [FUCA1]
                • Mannosidase deficiency diseases
                  • Alpha-mannosidosis (GDGDB) [MAN2B1]
                    • Alpha-mannosidosis, type I (early-onset) [MAN2B1]
                    • Alpha-mannosidosis, type II (later-onset) [MAN2B1]
                  • Beta-mannosidosis (GDGDB) [MANBA]
                • Sialidosis (GDGDB) [NEU1]
                  • Sialidosis type I [NEU1]
                  • Sialidosis type II [NEU1]
                    • Sialidosis type II, congenital form [NEU1]
                    • Sialidosis type II, infantile form [NEU1]
                    • Sialidosis type II, juvenile form [NEU1]
              • Other disorders of glycoprotein metabolism
                • Schindler disease
                  • Schindler disease, type I (GDGDB) [NAGA]
                  • Schindler disease, type II (GDGDB) [NAGA]
                • Galactosialidosis (GDGDB) [CTSA]
              • Defects in post-translational modification of lysosomal enzymes
                • Mucolipidosis II (alpha/beta) (GDGDB) [GNPTAB]
                • Mucolipidosis III (alpha/beta) (GDGDB) [GNPTAB]