Legend:

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

'Brachydactyly'  (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]