Legend:

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

'Joint 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
      • Joint Diseases
        • Arthritis
          • Osteoarthritis
            • Spondyloepimetaphyseal dysplasia, pakistani type [PAPSS2]
            • Diastrophic dysplasia [SLC26A2]
            • Autosomal recessive multiple epiphyseal dysplasia [SLC26A2]
          • Spondyloepiphyseal dysplasia with congenital joint dislocations [CHST3]
        • Contracture
          • Hip Contracture
            • Fukuyama congenital muscular dystrophy (GDGDB) [FKTN]
          • PMM2-CDG (GDGDB) [PMM2]
            • PMM2-CDG, late-infantile and childhood ataxia-intellectual disability stage [PMM2]
            • PMM2-CDG, adult stable disability stage [PMM2]
          • ALG3-CDG (GDGDB) [ALG3]
          • DPM1-CDG (GDGDB) [DPM1]
          • DPAGT1-CDG (GDGDB) [DPAGT1]
          • ALG1-CDG (GDGDB) [ALG1]
          • Fukuyama congenital muscular dystrophy (GDGDB) [FKTN]
          • Muscular dystrophy, limb-girdle, type 2M (GDGDB) [FKTN]
          • Muscular dystrophy, congenital, type 1C (GDGDB) [FKRP]
          • LARGE-CDG (cong. muscular dystrophy spectrum) [LARGE]
          • Diastrophic dysplasia [SLC26A2]
          • Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
          • Bruck syndrome 2 (GDGDB) [PLOD2]
          • Lysyl hydroxylase 3 deficiency (GDGDB) [PLOD3]
          • ALG13-CDG [ALG13]
          • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
        • Coxa Vara
          • EXT1/EXT2-CDG [EXT1,EXT2]
        • Joint Instability
          • ATP6VOA2-CDG [ATP6V0A2]
          • B4GALT7-CDG [B4GALT7]
          • Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
          • TMEM165-CDG [TMEM165]
          • Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects [B3GAT3]
          • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
        • ATP6VOA2-CDG [ATP6V0A2]
        • Bruck syndrome 2 (GDGDB) [PLOD2]
        • Spondyloepiphyseal dysplasia with congenital joint dislocations [CHST3]