Legend:

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

'Bone 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
    • Musculoskeletal Diseases
      • Bone Diseases
        • Bone Diseases, Developmental
          • Dwarfism
            • PMM2-CDG (GDGDB) [PMM2]
            • MPDU1-CDG (GDGDB) [MPDU1]
            • DOLK-CDG [TMEM15]
            • MGAT2-CDG (GDGDB) [MGAT2]
            • SLC35C1-CDG (GDGDB) [SLC35C1]
            • COG1-CDG [COG1]
            • B4GALT7-CDG [B4GALT7]
            • EXT1/EXT2-CDG [EXT1,EXT2]
            • Spondyloepimetaphyseal dysplasia, pakistani type [PAPSS2]
            • Diastrophic dysplasia [SLC26A2]
            • Achondrogenesis type IB [SLC26A2]
            • Neonatal osseous dysplasia I [SLC26A2]
            • Autosomal recessive multiple epiphyseal dysplasia [SLC26A2]
            • SLC35D1-CDG [SLC35D1]
            • B3GALTL-CDG [B3GALTL]
            • TMEM165-CDG [TMEM165]
            • Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects [B3GAT3]
            • Temtamy preaxial brachydactyly syndrome [CHSY1]
            • Spondyloepiphyseal dysplasia with congenital joint dislocations [CHST3]
            • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
          • Dysostoses
          • Osteochondrodysplasias
            • SLC35D1-CDG [SLC35D1]
            • Osteochondroma
              • Osteochondromatosis
                • Exostoses, Multiple Hereditary
                  • EXT1/EXT2-CDG [EXT1,EXT2]
            • Osteogenesis Imperfecta
              • Bruck syndrome 2 (GDGDB) [PLOD2]
              • TMEM165-CDG [TMEM165]
              • Spondyloepiphyseal dysplasia with congenital joint dislocations [CHST3]
          • ALG12-CDG (GDGDB) [ALG12]
          • Spondyloepimetaphyseal dysplasia, pakistani type [PAPSS2]
          • Diastrophic dysplasia [SLC26A2]
          • Achondrogenesis type IB [SLC26A2]
          • SLC35D1-CDG [SLC35D1]
          • LFNG-CDG [LFNG]
          • TMEM165-CDG [TMEM165]
          • Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects [B3GAT3]
          • Spondyloepiphyseal dysplasia with congenital joint dislocations [CHST3]
        • Bone Diseases, Metabolic
          • Osteoporosis
            • PMM2-CDG (GDGDB) [PMM2]
            • MGAT2-CDG (GDGDB) [MGAT2]
            • COG1-CDG [COG1]
            • ATP6VOA2-CDG [ATP6V0A2]
            • B4GALT7-CDG [B4GALT7]
            • Bruck syndrome 2 (GDGDB) [PLOD2]
            • Lysyl hydroxylase 3 deficiency (GDGDB) [PLOD3]
            • DDOST-CDG [DDOST]
            • TMEM165-CDG [TMEM165]
            • Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects [B3GAT3]
        • Spinal Diseases
          • Spinal Curvatures
            • Kyphosis
              • Muscular dystrophy, limb-girdle, type 2I (GDGDB) [FKRP]
              • Spondyloepimetaphyseal dysplasia, pakistani type [PAPSS2]
              • Neonatal osseous dysplasia I [SLC26A2]
              • Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
              • SRD5A3-CDG [SRD5A3]
              • TMEM165-CDG [TMEM165]
              • Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects [B3GAT3]
              • Spondyloepiphyseal dysplasia with congenital joint dislocations [CHST3]
              • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
            • Lordosis
              • Muscular dystrophy, limb-girdle, type 2M (GDGDB) [FKTN]
              • Muscular dystrophy, limb-girdle, type 2I (GDGDB) [FKRP]
              • Neonatal osseous dysplasia I [SLC26A2]
            • Scoliosis
              • GCS1-CDG (GDGDB) [GCS1]
              • Muscular dystrophy, limb-girdle, type 2I (GDGDB) [FKRP]
              • Spondyloepimetaphyseal dysplasia, pakistani type [PAPSS2]
              • Diastrophic dysplasia [SLC26A2]
              • Neonatal osseous dysplasia I [SLC26A2]
              • Autosomal recessive multiple epiphyseal dysplasia [SLC26A2]
              • LFNG-CDG [LFNG]
              • Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
              • Lysyl hydroxylase 3 deficiency (GDGDB) [PLOD3]
              • ALG11-CDG [ALG11]
              • ALG13-CDG [ALG13]
              • TMEM165-CDG [TMEM165]
              • Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects [B3GAT3]
              • Spondyloepiphyseal dysplasia with congenital joint dislocations [CHST3]
              • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
            • PMM2-CDG (GDGDB) [PMM2]
              • PMM2-CDG, late-infantile and childhood ataxia-intellectual disability stage [PMM2]
              • PMM2-CDG, adult stable disability stage [PMM2]
            • MGAT2-CDG (GDGDB) [MGAT2]
            • COG1-CDG [COG1]
            • Diastrophic dysplasia [SLC26A2]
            • Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
            • TMEM165-CDG [TMEM165]
            • Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects [B3GAT3]
            • Spondyloepiphyseal dysplasia with congenital joint dislocations [CHST3]
          • Spondylosis
            • COG1-CDG [COG1]
            • Spondyloepimetaphyseal dysplasia, pakistani type [PAPSS2]
            • SLC35D1-CDG [SLC35D1]
            • LFNG-CDG [LFNG]
            • TMEM165-CDG [TMEM165]
            • Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects [B3GAT3]
            • Spondyloepiphyseal dysplasia with congenital joint dislocations [CHST3]
        • Genu Valgum
          • EXT1/EXT2-CDG [EXT1,EXT2]
          • Spondyloepiphyseal dysplasia with congenital joint dislocations [CHST3]
        • Hyperostosis
          • Exostoses
            • Exostoses, Multiple Hereditary
              • EXT1/EXT2-CDG [EXT1,EXT2]