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
              • Eye Diseases
                • Retinal Diseases
                  • Retinal Degeneration
                    • Retinal Dystrophies
                      • Retinitis Pigmentosa
                        • PMM2-CDG (GDGDB) [PMM2]
                          • PMM2-CDG, infantile multisystem stage [PMM2]
                          • PMM2-CDG, late-infantile and childhood ataxia-intellectual disability stage [PMM2]
                          • PMM2-CDG, adult stable disability stage [PMM2]
                    • ALG6-CDG (GDGDB) [ALG6]
                    • POMT1/POMT2-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMT1,POMT2]
                    • POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
                    • Fukuyama congenital muscular dystrophy (GDGDB) [FKTN]
      • Lysosomal Storage Diseases (degradation)
        • Hereditary disorders by systems
          • Genetic disorders of glycan degradation (by systems, signs and symptoms)
            • Diseases
              • Eye Diseases
                • Retinal Diseases
                  • Retinal Degeneration
                    • Sialidosis (GDGDB) [NEU1]
                      • Sialidosis type I [NEU1]
                      • Sialidosis type II [NEU1]
                        • Sialidosis type II, infantile form [NEU1]
                        • Sialidosis type II, juvenile form [NEU1]
                    • Galactosialidosis (GDGDB) [CTSA]
                    • Hurler syndrome (GDGDB) [IDUA]
                    • Mucopolysaccharidosis II (GDGDB) [IDS]
                    • 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]
                    • Niemann-Pick disease, type A (GDGDB) [SMPD1]
                    • Farber Lipogranulomatosis (GDGDB) [ASAH1]
                      • Farber Lipogranulomatosis, type 1 [ASAH1]
                      • Farber Lipogranulomatosis, type 5 [ASAH1]