Legend:

• Concept Types
  • target (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]
            • Disorders of glycosaminoglycan metabolism
              • Mucopolysaccharidosis I
                • Hurler syndrome (GDGDB) [IDUA]
                • Hurler-Scheie syndrome (GDGDB) [IDUA]
                • Scheie syndrome (GDGDB) [IDUA]
              • Mucopolysaccharidosis II (GDGDB) [IDS]
              • Mucopolysaccharidosis III
                • Sanfilippo syndrome A (GDGDB) [SGSH]
                • Sanfilippo syndrome B (GDGDB) [NAGLU]
                • Sanfilippo syndrome C (GDGDB) [HGSNAT]
                • Sanfilippo syndrome D (GDGDB) [GNS]
              • Mucopolysaccharidosis IV
                • Morquio syndrome A (GDGDB) [GALNS]
                • Morquio syndrome B (GDGDB) [GLB1]
              • Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
                • Maroteaux-Lamy syndrome, severe form [ARSB]
                • Maroteaux-Lamy syndrome, mild form [ARSB]
                • Maroteaux-Lamy syndrome, intermediate form [ARSB]
              • Mucopolysaccharidosis VII (GDGDB) [GUSB]
            • Disorders of sphingolipid metabolism and other lipid storage disorders
              • Sphingolipidosis
                • Gangliosidosis
                  • GM1 gangliosidosis
                    • GM1-gangliosidosis, type I (GDGDB) [GLB1]
                    • GM1-gangliosidosis, type II (GDGDB) [GLB1]
                    • GM1-gangliosidosis, type III (GDGDB) [GLB1]
                  • GM2 gangliosidosis
                    • Tay-Sachs disease (GDGDB) [HEXA]
                      • Tay-Sachs disease, infantile form [HEXA]
                      • Tay-Sachs disease, late-onset forms [HEXA]
                    • Sandhoff disease (GDGDB) [HEXB]
                      • Sandhoff disease, infantile form [HEXB]
                      • Sandhoff disease, juvenile form [HEXB]
                      • Sandhoff disease, adult form [HEXB]
                    • GM2-gangliosidosis, AB variant (GDGDB) [GM2A]
                • Other sphingolipidosis
                  • Fabry disease (GDGDB) [GLA]
                  • Gaucher disease
                    • Gaucher disease, type I (GDGDB) [GBA]
                    • Gaucher disease, type II (GDGDB) [GBA]
                      • Gaucher disease, type II, neuronopathic form, classic type [GBA]
                      • Gaucher disease, type II, perinatal lethal form [GBA]
                    • Gaucher disease, type III (GDGDB) [GBA]
                    • Gaucher disease, type IIIC (GDGDB) [GBA]
                    • Gaucher disease, atypical, due to saposin C deficiency (GDGDB) [PSAP]
                  • Krabbe disease (GDGDB) [GALC]
                    • Krabbe disease, infantile form [GALC]
                    • Krabbe disease, late-onset form [GALC]
                  • Sulfatidosis
                    • Multiple sulfatase deficiency (GDGDB) [SUMF1]
                    • Metachromatic leukodystrophy
                      • Metachromatic leukodystrophy (GDGDB) [ARSA]
                        • Metachromatic leukodystrophy, infantile form [ARSA]
                        • Metachromatic leukodystrophy, juvenile form [ARSA]
                        • Metachromatic leukodystrophy, adult form [ARSA]
                      • Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
                  • Niemann-Pick disease
                    • Niemann-Pick disease, type A (GDGDB) [SMPD1]
                    • Niemann-Pick disease, type B (GDGDB) [SMPD1]
                    • Niemann-Pick disease, type C
                      • Niemann-Pick disease, type C1 (GDGDB) [NPC1]
                      • Niemann-Pick disease, type C2 (GDGDB) [NPC2]
                  • Farber Lipogranulomatosis (GDGDB) [ASAH1]
                    • Farber Lipogranulomatosis, type 1 [ASAH1]
                    • Farber Lipogranulomatosis, type 2 [ASAH1]
                    • Farber Lipogranulomatosis, type 3 [ASAH1]
                    • Farber Lipogranulomatosis, type 4 [ASAH1]
                    • Farber Lipogranulomatosis, type 5 [ASAH1]
                • Sphingolipidosis, unspecified
                  • Combined saposin deficiency (GDGDB) [PSAP]
              • Other lipid storage disorders
                • Wolman disease (GDGDB) [LIPA]
            • Other disorders of carbohydrate metabolism
              • Glycogen storage diseases
                • Pompe disease (GDGDB) [GAA]
                  • Pompe disease, infantile-onset form [GAA]
                  • Pompe disease, late-onset form [GAA]