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]
                    • Vision Disorders
                      • Blindness
                        • 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]
                        • ALG12-CDG (GDGDB) [ALG12]
                        • POMT1/POMT2-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMT1,POMT2]
                        • POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
                        • Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
                        • ST3GAL5-CDG [SIAT9]
                        • SRD5A3-CDG [SRD5A3]
                      • Vision, Low
                        • ALG3-CDG (GDGDB) [ALG3]
                        • MPDU1-CDG (GDGDB) [MPDU1]
                        • ALG1-CDG (GDGDB) [ALG1]
                        • POMT1/POMT2-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMT1,POMT2]
                        • POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
                        • Fukuyama congenital muscular dystrophy (GDGDB) [FKTN]
                        • B3GALTL-CDG [B3GALTL]
                        • ALG11-CDG [ALG11]
      • 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]
                      • Tinnitus
                        • Fabry disease (GDGDB) [GLA]
                    • Somatosensory Disorders
                      • Hypesthesia
                        • Beta-mannosidosis (GDGDB) [MANBA]
                        • Schindler disease, type II (GDGDB) [NAGA]
                        • Metachromatic leukodystrophy (GDGDB) [ARSA]
                        • Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
                      • Paresthesia
                        • Fabry disease (GDGDB) [GLA]
                    • Vision Disorders
                      • Blindness
                        • Schindler disease, type I (GDGDB) [NAGA]
                        • Galactosialidosis (GDGDB) [CTSA]
                        • Hurler syndrome (GDGDB) [IDUA]
                        • Hurler-Scheie syndrome (GDGDB) [IDUA]
                        • Scheie syndrome (GDGDB) [IDUA]
                        • 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]
                        • Tay-Sachs disease (GDGDB) [HEXA]
                        • Sandhoff disease (GDGDB) [HEXB]
                        • GM2-gangliosidosis, AB variant (GDGDB) [GM2A]
                        • Krabbe disease (GDGDB) [GALC]
                        • Metachromatic leukodystrophy (GDGDB) [ARSA]
                        • Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
                      • Vision, Low
                        • Sialidosis (GDGDB) [NEU1]
                        • Mucopolysaccharidosis II (GDGDB) [IDS]
                        • Sanfilippo syndrome A (GDGDB) [SGSH]
                        • Sanfilippo syndrome B (GDGDB) [NAGLU]
                        • Sanfilippo syndrome C (GDGDB) [HGSNAT]
                        • Sanfilippo syndrome D (GDGDB) [GNS]
                        • Gaucher disease, type IIIC (GDGDB) [GBA]