Legend:

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

• Congenital, Hereditary, and Neonatal Diseases and Abnormalities related to Glycans
  • Genetic Diseases, Inborn
    • Metabolism, Inborn Errors
      • Carbohydrate Metabolism, Inborn Errors (synthesis)
        • Hereditary disorders by systems
          • 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]
      • Lysosomal Storage Diseases (degradation)
        • Hereditary disorders by systems
          • Genetic disorders of glycan degradation (by systems, signs and symptoms)
            • Diseases
              • Musculoskeletal Diseases
                • Joint Diseases
                  • Arthritis
                    • Gaucher disease, type I (GDGDB) [GBA]
                    • Gaucher disease, type III (GDGDB) [GBA]
                    • Gaucher disease, type IIIC (GDGDB) [GBA]
                    • Farber Lipogranulomatosis (GDGDB) [ASAH1]
                  • Contracture
                    • Mucolipidosis II (alpha/beta) (GDGDB) [GNPTAB]
                    • Hurler syndrome (GDGDB) [IDUA]
                    • Hurler-Scheie syndrome (GDGDB) [IDUA]
                    • Scheie syndrome (GDGDB) [IDUA]
                    • Mucopolysaccharidosis II (GDGDB) [IDS]
                    • Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
                    • Mucopolysaccharidosis VII (GDGDB) [GUSB]
                    • Farber Lipogranulomatosis (GDGDB) [ASAH1]
                  • Aspartylglucosaminuria (GDGDB) [AGA]
                  • Alpha-mannosidosis (GDGDB) [MAN2B1]
                  • Mucolipidosis III (alpha/beta) (GDGDB) [GNPTAB]
                  • Sanfilippo syndrome A (GDGDB) [SGSH]
                  • Sanfilippo syndrome B (GDGDB) [NAGLU]
                  • Sanfilippo syndrome C (GDGDB) [HGSNAT]
                  • Sanfilippo syndrome D (GDGDB) [GNS]
                  • Morquio syndrome A (GDGDB) [GALNS]
                  • Morquio syndrome B (GDGDB) [GLB1]