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
                • 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]
                  • Hip Dislocation, Congenital
                    • ATP6VOA2-CDG [ATP6V0A2]
                    • Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
                    • Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects [B3GAT3]
                    • Spondyloepiphyseal dysplasia with congenital joint dislocations [CHST3]
                  • Limb Deformities, Congenital
                    • Brachydactyly
                      • ALG6-CDG (GDGDB) [ALG6]
                      • Spondyloepimetaphyseal dysplasia, pakistani type [PAPSS2]
                      • SLC35D1-CDG [SLC35D1]
                      • B3GALTL-CDG [B3GALTL]
                      • Temtamy preaxial brachydactyly syndrome [CHSY1]
                      • Spondyloepiphyseal dysplasia with congenital joint dislocations [CHST3]
                      • Hyperphosphatasia with mental retardation syndrome 1 [PIGV]
                    • Lower Extremity Deformities, Congenital
                      • Foot Deformities, Congenital
                        • Clubfoot
                          • Diastrophic dysplasia [SLC26A2]
                          • Achondrogenesis type IB [SLC26A2]
                          • Neonatal osseous dysplasia I [SLC26A2]
                          • Autosomal recessive multiple epiphyseal dysplasia [SLC26A2]
                          • Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
                          • Bruck syndrome 2 (GDGDB) [PLOD2]
                          • Lysyl hydroxylase 3 deficiency (GDGDB) [PLOD3]
                          • 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]
                        • Autosomal recessive multiple epiphyseal dysplasia [SLC26A2]
                        • ALG13-CDG [ALG13]
                        • 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]
                      • B3GALTL-CDG [B3GALTL]
                    • Upper Extremity Deformities, Congenital
                      • Hand Deformities, Congenital
                        • Autosomal recessive multiple epiphyseal dysplasia [SLC26A2]
                        • B3GALTL-CDG [B3GALTL]
                        • ALG13-CDG [ALG13]
                        • 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]
                        • Hyperphosphatasia with mental retardation syndrome 1 [PIGV]
                      • B3GALTL-CDG [B3GALTL]
                    • MGAT2-CDG (GDGDB) [MGAT2]
                    • 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]
                    • ALG13-CDG [ALG13]
                    • COG6-CDG [COG6]
                    • Temtamy preaxial brachydactyly syndrome [CHSY1]
                    • Spondyloepiphyseal dysplasia with congenital joint dislocations [CHST3]
                  • Arthrogryposis
                    • ALG3-CDG (GDGDB) [ALG3]
                    • Bruck syndrome 2 (GDGDB) [PLOD2]
                    • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
                  • COG7-CDG (GDGDB) [COG7]
                  • ATP6VOA2-CDG [ATP6V0A2]
                  • Diastrophic dysplasia [SLC26A2]
                  • Achondrogenesis type IB [SLC26A2]
                  • Neonatal osseous dysplasia I [SLC26A2]
                  • Autosomal recessive multiple epiphyseal dysplasia [SLC26A2]
                  • SLC35D1-CDG [SLC35D1]
                  • LFNG-CDG [LFNG]
                  • Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
                  • Lysyl hydroxylase 3 deficiency (GDGDB) [PLOD3]
                  • TMEM165-CDG [TMEM165]
                  • Temtamy preaxial brachydactyly syndrome [CHSY1]
      • Lysosomal Storage Diseases (degradation)
        • Hereditary disorders by systems
          • Genetic disorders of glycan degradation (by systems, signs and symptoms)
            • Diseases
              • Musculoskeletal Diseases
                • Musculoskeletal Abnormalities
                  • Craniofacial Abnormalities
                    • Macrocephaly
                      • 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]
                      • Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
                      • Mucopolysaccharidosis VII (GDGDB) [GUSB]
                    • Maxillofacial Abnormalities
                      • Aspartylglucosaminuria (GDGDB) [AGA]
                      • Fucosidosis (GDGDB) [FUCA1]
                      • Alpha-mannosidosis (GDGDB) [MAN2B1]
                      • Beta-mannosidosis (GDGDB) [MANBA]
                      • Sialidosis (GDGDB) [NEU1]
                      • 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]
                      • 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]
                      • Gaucher disease, type II (GDGDB) [GBA]
                        • Gaucher disease, type II, perinatal lethal form [GBA]
                      • Multiple sulfatase deficiency (GDGDB) [SUMF1]
                    • Microcephaly
                      • Aspartylglucosaminuria (GDGDB) [AGA]
                  • Hip Dislocation, Congenital
                    • Mucolipidosis II (alpha/beta) (GDGDB) [GNPTAB]
                  • Limb Deformities, Congenital
                    • Mucolipidosis II (alpha/beta) (GDGDB) [GNPTAB]
                  • Alpha-mannosidosis (GDGDB) [MAN2B1]
                  • Morquio syndrome A (GDGDB) [GALNS]
                  • Morquio syndrome B (GDGDB) [GLB1]
                  • GM1-gangliosidosis, type I (GDGDB) [GLB1]
                  • GM1-gangliosidosis, type II (GDGDB) [GLB1]
                  • GM1-gangliosidosis, type III (GDGDB) [GLB1]
                  • Sandhoff disease (GDGDB) [HEXB]
                  • Gaucher disease, type I (GDGDB) [GBA]
                  • Gaucher disease, type III (GDGDB) [GBA]
                  • Gaucher disease, type IIIC (GDGDB) [GBA]
                  • Multiple sulfatase deficiency (GDGDB) [SUMF1]