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
              • Nervous System Diseases
                • Neurologic Manifestations
                  • Sensation Disorders
                    • Hearing Disorders
                      • Hearing Loss
                        • ST3GAL5-CDG [SIAT9]
              • Otorhinolaryngologic Diseases
                • Ear Diseases
                  • Hearing Disorders
                    • Hearing Loss
                      • ALG12-CDG (GDGDB) [ALG12]
                      • RFT1-CDG [RFT1]
                      • MGAT2-CDG (GDGDB) [MGAT2]
                      • B3GALTL-CDG [B3GALTL]
                      • Lysyl hydroxylase 3 deficiency (GDGDB) [PLOD3]
                      • ALG11-CDG [ALG11]
                      • Temtamy preaxial brachydactyly syndrome [CHSY1]
                      • Spondyloepiphyseal dysplasia with congenital joint dislocations [CHST3]
                      • Hyperphosphatasia with mental retardation syndrome 1 [PIGV]
      • Lysosomal Storage Diseases (degradation)
        • Hereditary disorders by systems
          • Genetic disorders of glycan degradation (by systems, signs and symptoms)
            • Diseases
              • Nervous System Diseases
                • Neurologic Manifestations
                  • Sensation Disorders
                    • Hearing Disorders
                      • Hearing Loss
                        • Alpha-mannosidosis (GDGDB) [MAN2B1]
                        • Beta-mannosidosis (GDGDB) [MANBA]
                        • Sialidosis (GDGDB) [NEU1]
                        • Schindler disease, type II (GDGDB) [NAGA]
                        • Galactosialidosis (GDGDB) [CTSA]
                        • Mucolipidosis II (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]
                        • Tay-Sachs disease (GDGDB) [HEXA]
                        • Sandhoff disease (GDGDB) [HEXB]
                        • GM2-gangliosidosis, AB variant (GDGDB) [GM2A]
                        • Fabry disease (GDGDB) [GLA]
                        • Krabbe disease (GDGDB) [GALC]
                          • Krabbe disease, infantile form [GALC]
                          • Krabbe disease, late-onset form [GALC]
                        • Multiple sulfatase deficiency (GDGDB) [SUMF1]
                        • Metachromatic leukodystrophy (GDGDB) [ARSA]
                        • Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
              • Otorhinolaryngologic Diseases
                • Ear Diseases
                  • Hearing Disorders
                    • Hearing Loss
                      • Alpha-mannosidosis (GDGDB) [MAN2B1]
                      • Beta-mannosidosis (GDGDB) [MANBA]
                      • Sialidosis (GDGDB) [NEU1]
                      • Schindler disease, type II (GDGDB) [NAGA]
                      • Galactosialidosis (GDGDB) [CTSA]
                      • Mucolipidosis II (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]
                      • Tay-Sachs disease (GDGDB) [HEXA]
                      • Sandhoff disease (GDGDB) [HEXB]
                      • GM2-gangliosidosis, AB variant (GDGDB) [GM2A]
                      • Fabry disease (GDGDB) [GLA]
                      • Krabbe disease (GDGDB) [GALC]
                        • Krabbe disease, infantile form [GALC]
                      • Multiple sulfatase deficiency (GDGDB) [SUMF1]
                      • Metachromatic leukodystrophy (GDGDB) [ARSA]
                      • Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]