Legend:

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

'Osteogenesis Imperfecta'  (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
    • Musculoskeletal Diseases
      • Bone Diseases
        • Bone Diseases, Developmental
          • Osteochondrodysplasias
            • Osteogenesis Imperfecta
              • Bruck syndrome 2 (GDGDB) [PLOD2]
              • TMEM165-CDG [TMEM165]
              • Spondyloepiphyseal dysplasia with congenital joint dislocations [CHST3]
    • Skin and Connective Tissue Diseases
      • Connective Tissue Diseases
        • Collagen Diseases
          • Osteogenesis Imperfecta
            • Bruck syndrome 2 (GDGDB) [PLOD2]
            • TMEM165-CDG [TMEM165]
            • Spondyloepiphyseal dysplasia with congenital joint dislocations [CHST3]