Legend:

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

'Macroglossia'  (Integration tree)

Pathogenesis (traditional nomenclature)

• Genetic disorders of glycan synthesis (traditional nomenclature)

Pathogenesis (new nomenclature)

• Genetic disorders of glycan synthesis (new nomenclature)

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

• Genetic disorders of glycan synthesis (by systems, signs and symptoms)
  • Diseases
    • Stomatognathic Diseases
      • Mouth Diseases
        • Tongue Diseases
          • Macroglossia
            • Fukuyama congenital muscular dystrophy (GDGDB) [FKTN]
            • Muscular dystrophy, congenital, type 1C (GDGDB) [FKRP]
            • LARGE-CDG (cong. muscular dystrophy spectrum) [LARGE]