Legend:

• Concept Types
  • target (single disease)
  • 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
                • GAG Sulfation Deficiencies
                  • Chondrodysplasias (CDs)
                    • Spondyloepimetaphyseal dysplasia, pakistani type [PAPSS2]
          • 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
                    • Chondrodysplasias (CDs)
                      • Spondyloepimetaphyseal dysplasia, pakistani type [PAPSS2]
        • Hereditary disorders by systems
          • Genetic disorders of glycan synthesis (by systems, signs and symptoms)
            • Diseases
              • Musculoskeletal Diseases
                • Bone Diseases
                  • Bone Diseases, Developmental
                    • Dwarfism
                      • Spondyloepimetaphyseal dysplasia, pakistani type [PAPSS2]
                    • Spondyloepimetaphyseal dysplasia, pakistani type [PAPSS2]
                  • Spinal Diseases
                    • Spinal Curvatures
                      • Kyphosis
                        • Spondyloepimetaphyseal dysplasia, pakistani type [PAPSS2]
                      • Scoliosis
                        • Spondyloepimetaphyseal dysplasia, pakistani type [PAPSS2]
                    • Spondylosis
                      • Spondyloepimetaphyseal dysplasia, pakistani type [PAPSS2]
                • Joint Diseases
                  • Arthritis
                    • Osteoarthritis
                      • Spondyloepimetaphyseal dysplasia, pakistani type [PAPSS2]
                • Musculoskeletal Abnormalities
                  • Limb Deformities, Congenital
                    • Brachydactyly
                      • Spondyloepimetaphyseal dysplasia, pakistani type [PAPSS2]
                    • Spondyloepimetaphyseal dysplasia, pakistani type [PAPSS2]
                • Cartilage Diseases
                  • Spondyloepimetaphyseal dysplasia, pakistani type [PAPSS2]
              • Skin and Connective Tissue Diseases
                • Connective Tissue Diseases
                  • Cartilage Diseases
                    • Spondyloepimetaphyseal dysplasia, pakistani type [PAPSS2]
              • Nutritional and Metabolic Diseases
                • Metabolic Diseases
                  • Calcium Metabolism Disorders
                    • Calcinosis
                      • Spondyloepimetaphyseal dysplasia, pakistani type [PAPSS2]