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
                    • 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]