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]
      • 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]