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
                • Bone Diseases
                  • Spinal Diseases
                    • Spinal Curvatures
                      • Kyphosis
                        • Muscular dystrophy, limb-girdle, type 2I (GDGDB) [FKRP]
                        • Spondyloepimetaphyseal dysplasia, pakistani type [PAPSS2]
                        • Neonatal osseous dysplasia I [SLC26A2]
                        • Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
                        • SRD5A3-CDG [SRD5A3]
                        • TMEM165-CDG [TMEM165]
                        • 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]
                      • Lordosis
                        • Muscular dystrophy, limb-girdle, type 2M (GDGDB) [FKTN]
                        • Muscular dystrophy, limb-girdle, type 2I (GDGDB) [FKRP]
                        • Neonatal osseous dysplasia I [SLC26A2]
                      • Scoliosis
                        • GCS1-CDG (GDGDB) [GCS1]
                        • Muscular dystrophy, limb-girdle, type 2I (GDGDB) [FKRP]
                        • Spondyloepimetaphyseal dysplasia, pakistani type [PAPSS2]
                        • Diastrophic dysplasia [SLC26A2]
                        • Neonatal osseous dysplasia I [SLC26A2]
                        • Autosomal recessive multiple epiphyseal dysplasia [SLC26A2]
                        • LFNG-CDG [LFNG]
                        • Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
                        • Lysyl hydroxylase 3 deficiency (GDGDB) [PLOD3]
                        • ALG11-CDG [ALG11]
                        • ALG13-CDG [ALG13]
                        • TMEM165-CDG [TMEM165]
                        • 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]
                      • PMM2-CDG (GDGDB) [PMM2]
                        • PMM2-CDG, late-infantile and childhood ataxia-intellectual disability stage [PMM2]
                        • PMM2-CDG, adult stable disability stage [PMM2]
                      • MGAT2-CDG (GDGDB) [MGAT2]
                      • COG1-CDG [COG1]
                      • Diastrophic dysplasia [SLC26A2]
                      • Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
                      • TMEM165-CDG [TMEM165]
                      • Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects [B3GAT3]
                      • Spondyloepiphyseal dysplasia with congenital joint dislocations [CHST3]
                    • Spondylosis
                      • COG1-CDG [COG1]
                      • Spondyloepimetaphyseal dysplasia, pakistani type [PAPSS2]
                      • SLC35D1-CDG [SLC35D1]
                      • LFNG-CDG [LFNG]
                      • TMEM165-CDG [TMEM165]
                      • Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects [B3GAT3]
                      • 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
                • Bone Diseases
                  • Spinal Diseases
                    • Spinal Curvatures
                      • Kyphosis
                        • Mucolipidosis II (alpha/beta) (GDGDB) [GNPTAB]
                        • Multiple sulfatase deficiency (GDGDB) [SUMF1]
                    • Spinal Stenosis
                      • Hurler syndrome (GDGDB) [IDUA]
                      • Hurler-Scheie syndrome (GDGDB) [IDUA]
                      • Scheie syndrome (GDGDB) [IDUA]
                      • Mucopolysaccharidosis II (GDGDB) [IDS]
                      • Morquio syndrome A (GDGDB) [GALNS]
                      • Morquio syndrome B (GDGDB) [GLB1]
                      • Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
                      • Mucopolysaccharidosis VII (GDGDB) [GUSB]
                    • Aspartylglucosaminuria (GDGDB) [AGA]
                    • Alpha-mannosidosis (GDGDB) [MAN2B1]
                    • Galactosialidosis (GDGDB) [CTSA]
                    • GM1-gangliosidosis, type I (GDGDB) [GLB1]
                    • GM1-gangliosidosis, type II (GDGDB) [GLB1]
                    • GM1-gangliosidosis, type III (GDGDB) [GLB1]