Legend:

• Concept Types
  • target (single disease)
  • 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-xylose glycosaminoglycans
                • GAG Sulfation Deficiencies
                  • Macular corneal dystrophy [CHST6]
          • 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]
        • Hereditary disorders by systems
          • 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]