Legend:

• Concept Types

• 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
                • Neurodegenerative Diseases
                  • Heredodegenerative Disorders, Nervous System
                    • PMM2-CDG (GDGDB) [PMM2]
                      • PMM2-CDG, infantile multisystem stage [PMM2]
                      • PMM2-CDG, late-infantile and childhood ataxia-intellectual disability stage [PMM2]
                    • ALG3-CDG (GDGDB) [ALG3]
                    • ALG1-CDG (GDGDB) [ALG1]
                    • ALG9-CDG (GDGDB) [ALG9]
                    • COG7-CDG (GDGDB) [COG7]
                    • COG1-CDG [COG1]
                    • COG8-CDG [COG8]
                    • COG5-CDG [COG5]
                    • COG4-CDG [COG4]
                    • ATP6VOA2-CDG [ATP6V0A2]
                    • B3GALTL-CDG [B3GALTL]
                    • ST3GAL5-CDG [SIAT9]
                    • SRD5A3-CDG [SRD5A3]
                    • DDOST-CDG [DDOST]
                    • ALG13-CDG [ALG13]
                    • TMEM165-CDG [TMEM165]
                    • Hyperphosphatasia with mental retardation syndrome 1 [PIGV]
                    • 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
                • Neurodegenerative Diseases
                  • Heredodegenerative Disorders, Nervous System
                    • Schindler disease, type I (GDGDB) [NAGA]
                    • Schindler disease, type II (GDGDB) [NAGA]
                    • Combined saposin deficiency (GDGDB) [PSAP]