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
                    • 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]