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
                • Musculoskeletal Abnormalities
                  • Limb Deformities, Congenital
                    • Brachydactyly
                      • ALG6-CDG (GDGDB) [ALG6]
                      • Spondyloepimetaphyseal dysplasia, pakistani type [PAPSS2]
                      • SLC35D1-CDG [SLC35D1]
                      • B3GALTL-CDG [B3GALTL]
                      • Temtamy preaxial brachydactyly syndrome [CHSY1]
                      • Spondyloepiphyseal dysplasia with congenital joint dislocations [CHST3]
                      • Hyperphosphatasia with mental retardation syndrome 1 [PIGV]
                    • Lower Extremity Deformities, Congenital
                      • Foot Deformities, Congenital
                        • Clubfoot
                          • Diastrophic dysplasia [SLC26A2]
                          • Achondrogenesis type IB [SLC26A2]
                          • Neonatal osseous dysplasia I [SLC26A2]
                          • Autosomal recessive multiple epiphyseal dysplasia [SLC26A2]
                          • Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
                          • Bruck syndrome 2 (GDGDB) [PLOD2]
                          • Lysyl hydroxylase 3 deficiency (GDGDB) [PLOD3]
                          • Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects [B3GAT3]
                          • Spondyloepiphyseal dysplasia with congenital joint dislocations [CHST3]
                          • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
                        • Autosomal recessive multiple epiphyseal dysplasia [SLC26A2]
                        • ALG13-CDG [ALG13]
                        • Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects [B3GAT3]
                        • Temtamy preaxial brachydactyly syndrome [CHSY1]
                        • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
                        • Hyperphosphatasia with mental retardation syndrome 1 [PIGV]
                      • B3GALTL-CDG [B3GALTL]
                    • Upper Extremity Deformities, Congenital
                      • Hand Deformities, Congenital
                        • Autosomal recessive multiple epiphyseal dysplasia [SLC26A2]
                        • B3GALTL-CDG [B3GALTL]
                        • ALG13-CDG [ALG13]
                        • Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects [B3GAT3]
                        • Temtamy preaxial brachydactyly syndrome [CHSY1]
                        • Spondyloepiphyseal dysplasia with congenital joint dislocations [CHST3]
                        • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
                        • Hyperphosphatasia with mental retardation syndrome 1 [PIGV]
                      • B3GALTL-CDG [B3GALTL]
                    • MGAT2-CDG (GDGDB) [MGAT2]
                    • 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]
                    • ALG13-CDG [ALG13]
                    • COG6-CDG [COG6]
                    • Temtamy preaxial brachydactyly syndrome [CHSY1]
                    • Spondyloepiphyseal dysplasia with congenital joint dislocations [CHST3]
      • Lysosomal Storage Diseases (degradation)
        • Hereditary disorders by systems
          • Genetic disorders of glycan degradation (by systems, signs and symptoms)
            • Diseases
              • Musculoskeletal Diseases
                • Musculoskeletal Abnormalities
                  • Limb Deformities, Congenital
                    • Mucolipidosis II (alpha/beta) (GDGDB) [GNPTAB]