Legend:

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

'Macular corneal dystrophy'  (Integration tree)

Pathogenesis (traditional nomenclature)

• Genetic disorders of glycan synthesis (traditional nomenclature)
  • Disorders of O-linked glycosylation
    • Defects in O-xylose glycosaminoglycans
      • GAG Sulfation Deficiencies
        • Macular corneal dystrophy [CHST6]

Pathogenesis (new nomenclature)

• Genetic disorders of glycan synthesis (new nomenclature)
  • Congenital disorders of glycosylation (CDGs)
    • Defects in protein O-glycosylation
      • Defects in O-xylosylglycan synthesis
        • Defective GAG Sulfation
          • Macular corneal dystrophy [CHST6]

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

• Genetic disorders of glycan synthesis (by systems, signs and symptoms)
  • Diseases
    • Eye Diseases
      • Corneal Diseases
        • Corneal Opacity
          • Macular corneal dystrophy [CHST6]
        • Macular corneal dystrophy [CHST6]
        • Corneal Dystrophies, Hereditary
          • Macular corneal dystrophy [CHST6]
      • Eye Diseases, Hereditary
        • Corneal Dystrophies, Hereditary
          • Macular corneal dystrophy [CHST6]
      • Eye Manifestations
        • Eye Pain
          • Macular corneal dystrophy [CHST6]
      • Vision Disorders
        • Photophobia
          • Macular corneal dystrophy [CHST6]