Legend:

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

'Hereditary multiple exostoses' 'EXT1/EXT2-CDG'  (Integration tree)

Pathogenesis (traditional nomenclature)

• Genetic disorders of glycan synthesis (traditional nomenclature)
  • Disorders of O-linked glycosylation
    • Defects in O-xylose glycosaminoglycans
      • Hereditary multiple exostoses [EXT1,EXT2]

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
        • Impaired heparan sulfate synthesis
          • EXT1/EXT2-CDG [EXT1,EXT2]

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

• 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]