Legend:

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

'Jaw Abnormalities'  (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
        • 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]