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
                • 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]
      • Lysosomal Storage Diseases (degradation)
        • Hereditary disorders by systems
          • Genetic disorders of glycan degradation (by systems, signs and symptoms)
            • Diseases
              • Musculoskeletal Diseases
                • Bone Diseases
                  • Bone Diseases, Developmental
                    • Dwarfism
                      • Sialidosis (GDGDB) [NEU1]
                      • Galactosialidosis (GDGDB) [CTSA]
                      • Mucolipidosis III (alpha/beta) (GDGDB) [GNPTAB]
                      • Hurler syndrome (GDGDB) [IDUA]
                      • Hurler-Scheie syndrome (GDGDB) [IDUA]
                      • Scheie syndrome (GDGDB) [IDUA]
                      • Mucopolysaccharidosis II (GDGDB) [IDS]
                      • 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]
                      • Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
                      • Mucopolysaccharidosis VII (GDGDB) [GUSB]
                      • Niemann-Pick disease, type B (GDGDB) [SMPD1]
                    • Dysostoses
                      • Aspartylglucosaminuria (GDGDB) [AGA]
                      • Fucosidosis (GDGDB) [FUCA1]
                      • Alpha-mannosidosis (GDGDB) [MAN2B1]
                      • Beta-mannosidosis (GDGDB) [MANBA]
                      • Sialidosis (GDGDB) [NEU1]
                      • Schindler disease
                      • Galactosialidosis (GDGDB) [CTSA]
                      • Mucolipidosis II (alpha/beta) (GDGDB) [GNPTAB]
                      • Mucolipidosis III (alpha/beta) (GDGDB) [GNPTAB]
                      • Hurler syndrome (GDGDB) [IDUA]
                      • Hurler-Scheie syndrome (GDGDB) [IDUA]
                      • Scheie syndrome (GDGDB) [IDUA]
                      • Mucopolysaccharidosis II (GDGDB) [IDS]
                      • 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]
                      • Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
                      • Mucopolysaccharidosis VII (GDGDB) [GUSB]
                      • GM1-gangliosidosis, type I (GDGDB) [GLB1]
                      • GM1-gangliosidosis, type II (GDGDB) [GLB1]
                      • GM1-gangliosidosis, type III (GDGDB) [GLB1]
                      • Sandhoff disease (GDGDB) [HEXB]
                  • Bone Diseases, Metabolic
                    • Mucolipidoses
                      • Sialidosis (GDGDB) [NEU1]
                      • Mucolipidosis II (alpha/beta) (GDGDB) [GNPTAB]
                      • Mucolipidosis III (alpha/beta) (GDGDB) [GNPTAB]
                    • Osteoporosis
                      • Aspartylglucosaminuria (GDGDB) [AGA]
                      • Alpha-mannosidosis (GDGDB) [MAN2B1]
                      • Mucolipidosis III (alpha/beta) (GDGDB) [GNPTAB]
                      • Gaucher disease, type I (GDGDB) [GBA]
                      • Gaucher disease, type III (GDGDB) [GBA]
                      • Gaucher disease, type IIIC (GDGDB) [GBA]
                  • Spinal Diseases
                    • Spinal Curvatures
                      • Kyphosis
                        • Mucolipidosis II (alpha/beta) (GDGDB) [GNPTAB]
                        • Multiple sulfatase deficiency (GDGDB) [SUMF1]
                    • Spinal Stenosis
                      • Hurler syndrome (GDGDB) [IDUA]
                      • Hurler-Scheie syndrome (GDGDB) [IDUA]
                      • Scheie syndrome (GDGDB) [IDUA]
                      • Mucopolysaccharidosis II (GDGDB) [IDS]
                      • Morquio syndrome A (GDGDB) [GALNS]
                      • Morquio syndrome B (GDGDB) [GLB1]
                      • Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
                      • Mucopolysaccharidosis VII (GDGDB) [GUSB]
                    • Aspartylglucosaminuria (GDGDB) [AGA]
                    • Alpha-mannosidosis (GDGDB) [MAN2B1]
                    • Galactosialidosis (GDGDB) [CTSA]
                    • GM1-gangliosidosis, type I (GDGDB) [GLB1]
                    • GM1-gangliosidosis, type II (GDGDB) [GLB1]
                    • GM1-gangliosidosis, type III (GDGDB) [GLB1]