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)
            • Disorders of O-linked glycosylation
              • Defects in O-GalNAc glycans
                • Tn polyagglutination syndrome, somatic (SOMATIC MUTATION) [C1GALT1C1]
                • Tumoral calcinosis, hyperphosphatemic, familial [GALNT3]
          • Genetic disorders of glycan synthesis (new nomenclature)
            • Congenital disorders of glycosylation (CDGs)
              • Defects in protein O-glycosylation
                • Defects in O-GalNAc glycan biosynthesis
                  • Tn polyagglutination syndrome, somatic (SOMATIC MUTATION) [C1GALT1C1]
                  • GALNT3-CDG [GALNT3]