Legend:

• Concept Types
  • target (clinical findings)
  • 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)
        • Hereditary disorders by systems
          • Genetic disorders of glycan synthesis (by systems, signs and symptoms)
            • Diseases
              • Skin and Connective Tissue Diseases
                • Connective Tissue Diseases
                  • Collagen Diseases
                    • Ehlers-Danlos Syndrome
                    • Osteogenesis Imperfecta
                      • Bruck syndrome 2 (GDGDB) [PLOD2]
                      • TMEM165-CDG [TMEM165]
                      • Spondyloepiphyseal dysplasia with congenital joint dislocations [CHST3]