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
                  • Craniofacial Abnormalities
                    • Maxillofacial Abnormalities
                      • Jaw Abnormalities
                        • Cleft Palate
                          • Diastrophic dysplasia [SLC26A2]
                          • Neonatal osseous dysplasia I [SLC26A2]
                          • Autosomal recessive multiple epiphyseal dysplasia [SLC26A2]
                          • SLC35D1-CDG [SLC35D1]
                          • B3GALTL-CDG [B3GALTL]
                          • PGM1-CDG [PGM1]
                          • 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]
                        • Micrognathism
                          • DPAGT1-CDG (GDGDB) [DPAGT1]
                          • ALG1-CDG (GDGDB) [ALG1]
                          • COG7-CDG (GDGDB) [COG7]
                          • COG1-CDG [COG1]
                          • B3GALTL-CDG [B3GALTL]
                          • ALG13-CDG [ALG13]
                          • Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects [B3GAT3]
                          • Temtamy preaxial brachydactyly syndrome [CHSY1]
              • Stomatognathic Diseases
                • Stomatognathic System Abnormalities
                  • Maxillofacial Abnormalities
                    • Jaw Abnormalities
                      • Cleft Palate
                        • Diastrophic dysplasia [SLC26A2]
                        • Neonatal osseous dysplasia I [SLC26A2]
                        • Autosomal recessive multiple epiphyseal dysplasia [SLC26A2]
                        • SLC35D1-CDG [SLC35D1]
                        • B3GALTL-CDG [B3GALTL]
                        • PGM1-CDG [PGM1]
                        • 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]
                      • Micrognathism
                        • DPAGT1-CDG (GDGDB) [DPAGT1]
                        • ALG1-CDG (GDGDB) [ALG1]
                        • COG7-CDG (GDGDB) [COG7]
                        • COG1-CDG [COG1]
                        • B3GALTL-CDG [B3GALTL]
                        • ALG13-CDG [ALG13]
                        • Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects [B3GAT3]
                        • Temtamy preaxial brachydactyly syndrome [CHSY1]
                      • Retrognathia
                        • COG6-CDG [COG6]
                      • Pierre Robin Syndrome
                        • PGM1-CDG [PGM1]