Legend:

• Concept Types
  • target (clinical findings)
  • classification term
  • pathway-based classification term
  • clinical findings
  • multiple types disease
  • single disease
  • disease type

'Retinal Diseases'  (Integration tree)

Pathogenesis (traditional nomenclature)

• Genetic disorders of glycan synthesis (traditional nomenclature)

Pathogenesis (new nomenclature)

• Genetic disorders of glycan synthesis (new nomenclature)

Genetic disorders of glycan synthesis (by systems, signs and symptoms)

• 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]
        • Retinal Detachment
          • Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
          • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
        • DPM1-CDG (GDGDB) [DPM1]
        • Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]