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
              • Musculoskeletal Diseases
                • Cartilage Diseases
                  • Spondyloepimetaphyseal dysplasia, pakistani type [PAPSS2]
                  • Diastrophic dysplasia [SLC26A2]
                  • Achondrogenesis type IB [SLC26A2]
                  • Neonatal osseous dysplasia I [SLC26A2]
                  • Autosomal recessive multiple epiphyseal dysplasia [SLC26A2]
                  • SLC35D1-CDG [SLC35D1]
              • Skin and Connective Tissue Diseases
                • Connective Tissue Diseases
                  • Cartilage Diseases
                    • Spondyloepimetaphyseal dysplasia, pakistani type [PAPSS2]
                    • Diastrophic dysplasia [SLC26A2]
                    • Achondrogenesis type IB [SLC26A2]
                    • Neonatal osseous dysplasia I [SLC26A2]
                    • Autosomal recessive multiple epiphyseal dysplasia [SLC26A2]
                    • SLC35D1-CDG [SLC35D1]