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
      • Carbohydrate Metabolism, Inborn Errors (synthesis)
        • Pathogenesis
          • Genetic disorders of glycan synthesis (traditional nomenclature)
            • Defects in glycolipid synthesis
              • Defects in GSL synthesis
                • Amish infantile epilepsy syndrome [SIAT9]
              • Defects in GPI-anchor biosynthesis
                • Paroxysmal nocturnal hemoglobinuria, somatic (SOMATIC MUTATION) (GDGDB) [PIGA]
                • Glycosylphosphatidylinositol deficiency [PIGM]
          • Genetic disorders of glycan synthesis (new nomenclature)
            • Congenital disorders of glycosylation (CDGs)
              • Defects in glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation
                • Disorders of glycosphingolipid biosynthesis
                  • ST3GAL5-CDG [SIAT9]
                • Disorders of glycosylphosphatidylinositol anchor biosynthesis
                  • Paroxysmal nocturnal hemoglobinuria, somatic (SOMATIC MUTATION) (GDGDB) [PIGA]
                  • PIGM-CDG [PIGM]
                  • Hyperphosphatasia with mental retardation syndrome 1 [PIGV]
                  • Multiple congenital anomalies-hypotonia-seizures syndrome 1 [PIGN]