Legend:

• Concept Types
  • target (pathway-based classification term)
  • 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
                • Ehlers-Danlos syndrome, progeroid form [B4GALT7]
                • Hereditary multiple exostoses [EXT1,EXT2]
                • GAG Sulfation Deficiencies
                  • Macular corneal dystrophy [CHST6]
                  • Chondrodysplasias (CDs)
                    • Spondyloepimetaphyseal dysplasia, pakistani type [PAPSS2]
                    • Other CDs
                      • Diastrophic dysplasia [SLC26A2]
                      • Achondrogenesis type IB [SLC26A2]
                      • Neonatal osseous dysplasia I [SLC26A2]
                      • Autosomal recessive multiple epiphyseal dysplasia [SLC26A2]
                • Schneckenbecken dysplasia [SLC35D1]
          • Genetic disorders of glycan synthesis (new nomenclature)
            • Congenital disorders of glycosylation (CDGs)
              • Defects in protein O-glycosylation
                • Defects in O-xylosylglycan synthesis
                  • Defective GAG Sulfation
                    • Macular corneal dystrophy [CHST6]
                    • Chondrodysplasias (CDs)
                      • Spondyloepimetaphyseal dysplasia, pakistani type [PAPSS2]
                      • Diastrophic dysplasia [SLC26A2]
                      • Achondrogenesis type IB [SLC26A2]
                      • Neonatal osseous dysplasia I [SLC26A2]
                      • Autosomal recessive multiple epiphyseal dysplasia [SLC26A2]
                    • Spondyloepiphyseal dysplasia with congenital joint dislocations [CHST3]
                    • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
                  • Linkage glycan defects
                    • B4GALT7-CDG [B4GALT7]
                  • Impaired heparan sulfate synthesis
                    • EXT1/EXT2-CDG [EXT1,EXT2]
                  • Defect in GAG core biosynthesis
                    • Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects [B3GAT3]
                  • Defect in GAG chain polymerization
                    • Temtamy preaxial brachydactyly syndrome [CHSY1]