Legend:

• Concept Types
  • target (pathway-based classification term)
  • classification term
  • pathway-based classification term
  • clinical findings
  • multiple types disease
  • single disease
  • disease type

'Defects in O-GalNAc glycans' 'Defects in O-GalNAc glycan biosynthesis'  (Integration tree)

Pathogenesis (traditional nomenclature)

• 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]

Pathogenesis (new nomenclature)

• 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]

Genetic disorders of glycan synthesis (by systems, signs and symptoms)

• Genetic disorders of glycan synthesis (by systems, signs and symptoms)