Legend:

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

'Stomatognathic Diseases'  (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
    • Stomatognathic Diseases
      • Mouth Diseases
        • Tongue Diseases
          • Macroglossia
            • Fukuyama congenital muscular dystrophy (GDGDB) [FKTN]
            • Muscular dystrophy, congenital, type 1C (GDGDB) [FKRP]
            • LARGE-CDG (cong. muscular dystrophy spectrum) [LARGE]
      • Stomatognathic System Abnormalities
        • Mouth Abnormalities
          • Cleft Lip
            • B3GALTL-CDG [B3GALTL]
            • 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]
        • Tooth Abnormalities
          • Dental Enamel Hypoplasia
            • GALNT3-CDG [GALNT3]
          • B4GALT7-CDG [B4GALT7]
          • Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
          • Mental retardation, autosomal recessive 12 [ST3GAL3]
          • Temtamy preaxial brachydactyly syndrome [CHSY1]
          • Spondyloepiphyseal dysplasia with congenital joint dislocations [CHST3]
        • 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]