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, 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]
      • 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, 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]