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
                • Hereditary multiple exostoses [EXT1,EXT2]
          • Genetic disorders of glycan synthesis (new nomenclature)
            • Congenital disorders of glycosylation (CDGs)
              • Defects in protein O-glycosylation
                • Defects in O-xylosylglycan synthesis
                  • Impaired heparan sulfate synthesis
                    • EXT1/EXT2-CDG [EXT1,EXT2]
        • Hereditary disorders by systems
          • Genetic disorders of glycan synthesis (by systems, signs and symptoms)
            • Diseases
              • Musculoskeletal Diseases
                • Bone Diseases
                  • Bone Diseases, Developmental
                    • Dwarfism
                      • EXT1/EXT2-CDG [EXT1,EXT2]
                    • Osteochondrodysplasias
                      • Osteochondroma
                        • Osteochondromatosis
                          • Exostoses, Multiple Hereditary
                            • EXT1/EXT2-CDG [EXT1,EXT2]
                  • Genu Valgum
                    • EXT1/EXT2-CDG [EXT1,EXT2]
                  • Hyperostosis
                    • Exostoses
                      • Exostoses, Multiple Hereditary
                        • EXT1/EXT2-CDG [EXT1,EXT2]
                • Joint Diseases
                  • Coxa Vara
                    • EXT1/EXT2-CDG [EXT1,EXT2]
              • Neoplasms
                • Neoplasms by Histologic Type
                  • Neoplasms, Connective and Soft Tissue
                    • Neoplasms, Connective Tissue
                      • Neoplasms, Bone Tissue
                        • Osteochondroma
                          • Osteochondromatosis
                            • Exostoses, Multiple Hereditary
                              • EXT1/EXT2-CDG [EXT1,EXT2]
                • Neoplastic Syndromes, Hereditary
                  • Exostoses, Multiple Hereditary
                    • EXT1/EXT2-CDG [EXT1,EXT2]
              • Nervous System Diseases
                • Central Nervous System Diseases
                  • Spinal Cord Diseases
                    • Spinal Cord Compression
                      • EXT1/EXT2-CDG [EXT1,EXT2]
                • Neurologic Manifestations
                  • Pain
                    • Musculoskeletal Pain
                      • EXT1/EXT2-CDG [EXT1,EXT2]
                • Neuromuscular Diseases
                  • Peripheral Nervous System Diseases
                    • Nerve Compression Syndromes
                      • EXT1/EXT2-CDG [EXT1,EXT2]
              • Pathological Conditions, Signs and Symptoms
                • Signs and Symptoms
                  • Mobility Limitation
                    • EXT1/EXT2-CDG [EXT1,EXT2]