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 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]