Legend:

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

'Craniofacial 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
          • Craniofacial Dysostosis
            • Hypertelorism
              • DPM1-CDG (GDGDB) [DPM1]
              • ALG1-CDG (GDGDB) [ALG1]
              • ALG13-CDG [ALG13]
              • Mental retardation, autosomal recessive 15 [MAN1B1]
              • Spondyloepiphyseal dysplasia with congenital joint dislocations [CHST3]
              • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
              • Hyperphosphatasia with mental retardation syndrome 1 [PIGV]
          • Macrocephaly
            • B4GALT1-CDG (GDGDB) [B4GALT1]
            • POMT1/POMT2-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMT1,POMT2]
            • POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
            • B3GALTL-CDG [B3GALTL]
          • Maxillofacial Abnormalities
            • PMM2-CDG (GDGDB) [PMM2]
              • PMM2-CDG, infantile multisystem stage [PMM2]
            • ALG3-CDG (GDGDB) [ALG3]
            • DPM1-CDG (GDGDB) [DPM1]
            • ALG12-CDG (GDGDB) [ALG12]
            • ALG8-CDG (GDGDB) [ALG8]
            • DPAGT1-CDG (GDGDB) [DPAGT1]
            • ALG1-CDG (GDGDB) [ALG1]
            • MGAT2-CDG (GDGDB) [MGAT2]
            • GCS1-CDG (GDGDB) [GCS1]
            • SLC35C1-CDG (GDGDB) [SLC35C1]
            • COG7-CDG (GDGDB) [COG7]
            • COG1-CDG [COG1]
            • COG8-CDG [COG8]
            • COG4-CDG [COG4]
            • ATP6VOA2-CDG [ATP6V0A2]
            • B4GALT7-CDG [B4GALT7]
            • Neonatal osseous dysplasia I [SLC26A2]
            • B3GALTL-CDG [B3GALTL]
            • Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
            • Lysyl hydroxylase 3 deficiency (GDGDB) [PLOD3]
            • 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]
            • SRD5A3-CDG [SRD5A3]
            • ALG13-CDG [ALG13]
            • TMEM165-CDG [TMEM165]
            • COG6-CDG [COG6]
            • Mental retardation, autosomal recessive 15 [MAN1B1]
            • Temtamy preaxial brachydactyly syndrome [CHSY1]
            • Spondyloepiphyseal dysplasia with congenital joint dislocations [CHST3]
            • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
            • Hyperphosphatasia with mental retardation syndrome 1 [PIGV]
            • Multiple congenital anomalies-hypotonia-seizures syndrome 1 [PIGN]
            • Retrognathia
              • COG6-CDG [COG6]
            • Pierre Robin Syndrome
              • PGM1-CDG [PGM1]
          • Microcephaly
            • ALG3-CDG (GDGDB) [ALG3]
            • DPM1-CDG (GDGDB) [DPM1]
            • ALG12-CDG (GDGDB) [ALG12]
            • DPAGT1-CDG (GDGDB) [DPAGT1]
            • ALG1-CDG (GDGDB) [ALG1]
            • ALG9-CDG (GDGDB) [ALG9]
            • DOLK-CDG [TMEM15]
            • RFT1-CDG [RFT1]
            • SLC35C1-CDG (GDGDB) [SLC35C1]
            • COG1-CDG [COG1]
            • COG8-CDG [COG8]
            • COG4-CDG [COG4]
            • ATP6VOA2-CDG [ATP6V0A2]
            • POMT1/POMT2-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMT1,POMT2]
            • POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
            • Muscular dystrophy, congenital, type 1C (GDGDB) [FKRP]
            • ALG11-CDG [ALG11]
            • ALG13-CDG [ALG13]
            • TMEM165-CDG [TMEM165]
            • COG6-CDG [COG6]
          • B4GALT7-CDG [B4GALT7]
          • Diastrophic dysplasia [SLC26A2]
          • Lysyl hydroxylase 3 deficiency (GDGDB) [PLOD3]
          • ALG11-CDG [ALG11]
          • ALG13-CDG [ALG13]
          • Mental retardation, autosomal recessive 15 [MAN1B1]
          • Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects [B3GAT3]
          • Ehlers-Danlos syndrome, musculocontractural type [CHST14]