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
              • Nervous System Diseases
                • Central Nervous System Diseases
                  • Movement Disorders
                    • Dyskinesias
                      • ST3GAL5-CDG [SIAT9]
                • Neurologic Manifestations
                  • Dyskinesias
                    • Ataxia
                      • PMM2-CDG (GDGDB) [PMM2]
                        • PMM2-CDG, infantile multisystem stage [PMM2]
                        • PMM2-CDG, late-infantile and childhood ataxia-intellectual disability stage [PMM2]
                        • PMM2-CDG, adult stable disability stage [PMM2]
                      • ALG6-CDG (GDGDB) [ALG6]
                      • DPM1-CDG (GDGDB) [DPM1]
                      • COG8-CDG [COG8]
                      • COG5-CDG [COG5]
                      • COG4-CDG [COG4]
                      • SRD5A3-CDG [SRD5A3]
                    • Myoclonus
                      • ALG6-CDG (GDGDB) [ALG6]
                      • RFT1-CDG [RFT1]
                      • COG8-CDG [COG8]
                      • POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
                      • ST3GAL5-CDG [SIAT9]
                    • Tremor
                      • DPAGT1-CDG (GDGDB) [DPAGT1]
                      • Multiple congenital anomalies-hypotonia-seizures syndrome 1 [PIGN]
      • Lysosomal Storage Diseases (degradation)
        • Hereditary disorders by systems
          • Genetic disorders of glycan degradation (by systems, signs and symptoms)
            • Diseases
              • Nervous System Diseases
                • Central Nervous System Diseases
                  • Movement Disorders
                    • Dyskinesias
                      • Aspartylglucosaminuria (GDGDB) [AGA]
                      • Fucosidosis (GDGDB) [FUCA1]
                      • Sialidosis (GDGDB) [NEU1]
                      • Sanfilippo syndrome A (GDGDB) [SGSH]
                      • Sanfilippo syndrome B (GDGDB) [NAGLU]
                      • Sanfilippo syndrome C (GDGDB) [HGSNAT]
                      • Sanfilippo syndrome D (GDGDB) [GNS]
                      • Tay-Sachs disease (GDGDB) [HEXA]
                      • Sandhoff disease (GDGDB) [HEXB]
                      • Gaucher disease, type II (GDGDB) [GBA]
                      • Krabbe disease (GDGDB) [GALC]
                      • Metachromatic leukodystrophy (GDGDB) [ARSA]
                      • Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
                      • Niemann-Pick disease, type A (GDGDB) [SMPD1]
                      • Niemann-Pick disease, type C1 (GDGDB) [NPC1]
                      • Niemann-Pick disease, type C2 (GDGDB) [NPC2]
                      • Combined saposin deficiency (GDGDB) [PSAP]
                • Neurologic Manifestations
                  • Dyskinesias
                    • Ataxia
                      • Aspartylglucosaminuria (GDGDB) [AGA]
                      • Alpha-mannosidosis (GDGDB) [MAN2B1]
                      • Sialidosis (GDGDB) [NEU1]
                      • Galactosialidosis (GDGDB) [CTSA]
                      • Tay-Sachs disease (GDGDB) [HEXA]
                      • Sandhoff disease (GDGDB) [HEXB]
                      • Metachromatic leukodystrophy (GDGDB) [ARSA]
                      • Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
                      • Niemann-Pick disease, type A (GDGDB) [SMPD1]
                      • Niemann-Pick disease, type C1 (GDGDB) [NPC1]
                      • Niemann-Pick disease, type C2 (GDGDB) [NPC2]
                    • Dystonia
                      • GM1-gangliosidosis, type I (GDGDB) [GLB1]
                      • GM1-gangliosidosis, type II (GDGDB) [GLB1]
                      • GM1-gangliosidosis, type III (GDGDB) [GLB1]
                      • Niemann-Pick disease, type A (GDGDB) [SMPD1]
                      • Niemann-Pick disease, type C1 (GDGDB) [NPC1]
                      • Niemann-Pick disease, type C2 (GDGDB) [NPC2]
                    • Myoclonus
                      • Sialidosis (GDGDB) [NEU1]
                      • Galactosialidosis (GDGDB) [CTSA]
                      • Farber Lipogranulomatosis (GDGDB) [ASAH1]
                        • Farber Lipogranulomatosis, type 5 [ASAH1]
                      • Combined saposin deficiency (GDGDB) [PSAP]
                    • Tremor
                      • Sialidosis (GDGDB) [NEU1]
                      • Niemann-Pick disease, type C1 (GDGDB) [NPC1]
                      • Niemann-Pick disease, type C2 (GDGDB) [NPC2]
                    • Hyperkinesis
                      • Combined saposin deficiency (GDGDB) [PSAP]