Legend:

• Concept Types
  • target (clinical findings)
  • classification term
  • pathway-based classification term
  • clinical findings
  • multiple types disease
  • single disease
  • disease type

'Limb Deformities, Congenital'  (Integration tree)

Pathogenesis (traditional nomenclature)

• Genetic disorders of glycan synthesis (traditional nomenclature)

Pathogenesis (new nomenclature)

• Genetic disorders of glycan synthesis (new nomenclature)

Genetic disorders of glycan synthesis (by systems, signs and symptoms)

• 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]