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
              • Eye Diseases
                • Ocular Motility Disorders
                  • RFT1-CDG [RFT1]
                  • Fukuyama congenital muscular dystrophy (GDGDB) [FKTN]
                  • Nystagmus, Pathologic
                    • Nystagmus, Congenital
                      • DPM1-CDG (GDGDB) [DPM1]
                      • DOLK-CDG [TMEM15]
                      • COG4-CDG [COG4]
                      • SRD5A3-CDG [SRD5A3]
                      • ALG13-CDG [ALG13]
                      • Multiple congenital anomalies-hypotonia-seizures syndrome 1 [PIGN]
                  • Strabismus
                    • 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]
                    • ALG3-CDG (GDGDB) [ALG3]
                    • DPM1-CDG (GDGDB) [DPM1]
                    • Esotropia
                      • 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]
                      • ALG9-CDG (GDGDB) [ALG9]
                      • COG8-CDG [COG8]
                      • Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
                    • Exotropia
                      • DPAGT1-CDG (GDGDB) [DPAGT1]
                    • ALG11-CDG [ALG11]
                    • DDOST-CDG [DDOST]
              • Nervous System Diseases
                • Central Nervous System Diseases
                  • Ocular Motility Disorders
                    • RFT1-CDG [RFT1]
                    • Fukuyama congenital muscular dystrophy (GDGDB) [FKTN]
                • Cranial Nerve Diseases
                  • Ocular Motility Disorders
                    • RFT1-CDG [RFT1]
                    • Fukuyama congenital muscular dystrophy (GDGDB) [FKTN]
                    • Nystagmus, Pathologic
                      • Nystagmus, Congenital
                        • DPM1-CDG (GDGDB) [DPM1]
                        • DOLK-CDG [TMEM15]
                        • COG4-CDG [COG4]
                        • SRD5A3-CDG [SRD5A3]
                        • ALG13-CDG [ALG13]
                        • Multiple congenital anomalies-hypotonia-seizures syndrome 1 [PIGN]
                    • Strabismus
                      • PMM2-CDG (GDGDB) [PMM2]
                        • PMM2-CDG, infantile multisystem stage [PMM2]
                      • ALG6-CDG (GDGDB) [ALG6]
                      • ALG3-CDG (GDGDB) [ALG3]
                      • DPM1-CDG (GDGDB) [DPM1]
                      • Esotropia
                        • PMM2-CDG (GDGDB) [PMM2]
                          • PMM2-CDG, infantile multisystem stage [PMM2]
                        • ALG9-CDG (GDGDB) [ALG9]
                        • COG8-CDG [COG8]
                        • Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
                      • Exotropia
                        • DPAGT1-CDG (GDGDB) [DPAGT1]
                      • ALG11-CDG [ALG11]
                      • DDOST-CDG [DDOST]
      • Lysosomal Storage Diseases (degradation)
        • Hereditary disorders by systems
          • Genetic disorders of glycan degradation (by systems, signs and symptoms)
            • Diseases
              • Eye Diseases
                • Ocular Motility Disorders
                  • Gaucher disease, type II (GDGDB) [GBA]
                  • Gaucher disease, type III (GDGDB) [GBA]
                  • Gaucher disease, type IIIC (GDGDB) [GBA]
                  • Niemann-Pick disease, type C1 (GDGDB) [NPC1]
                  • Niemann-Pick disease, type C2 (GDGDB) [NPC2]
              • Nervous System Diseases
                • Central Nervous System Diseases
                  • Ocular Motility Disorders
                    • Gaucher disease, type II (GDGDB) [GBA]
                    • Gaucher disease, type III (GDGDB) [GBA]
                    • Gaucher disease, type IIIC (GDGDB) [GBA]
                    • Niemann-Pick disease, type C1 (GDGDB) [NPC1]
                    • Niemann-Pick disease, type C2 (GDGDB) [NPC2]
                    • Combined saposin deficiency (GDGDB) [PSAP]