Legend:

• Concept Types
  • target (pathway-based classification term)
  • 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)
        • Pathogenesis
          • Genetic disorders of glycan synthesis (traditional nomenclature)
            • Disorders of O-linked glycosylation
              • Defects in O-mannose glycans
                • Walker-Warburg syndrome (GDGDB) [POMT1,POMT2]
                • Muscle-eye-brain disease (GDGDB) [POMGNT1]
                • Fukuyama congenital muscular dystrophy (GDGDB) [FKTN]
                • Muscular dystrophy, limb-girdle, type 2M (GDGDB) [FKTN]
                • Cardiomyopathy, dilated, 1X (GDGDB) [FKTN]
                • Muscular dystrophy, congenital, type 1C (GDGDB) [FKRP]
                • Muscular dystrophy, limb-girdle, type 2I (GDGDB) [FKRP]
                • Congenital muscular dystrophy type 1D [LARGE]
                • Duchenne muscular dystrophy [DMD]
                • Hereditary inclusion body myopathy type 2 [GNE]
                • Nonaka myopathy (GDGDB) [GNE]
          • Genetic disorders of glycan synthesis (new nomenclature)
            • Congenital disorders of glycosylation (CDGs)
              • Defects in protein O-glycosylation
                • Defects in O-mannosylglycan synthesis
                  • POMT1/POMT2-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMT1,POMT2]
                  • POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
                  • LARGE-CDG (cong. muscular dystrophy spectrum) [LARGE]
                  • FKTN-CDG (cong. muscular dystrophy spectrum)
                    • Fukuyama congenital muscular dystrophy (GDGDB) [FKTN]
                    • Muscular dystrophy, limb-girdle, type 2M (GDGDB) [FKTN]
                    • Cardiomyopathy, dilated, 1X (GDGDB) [FKTN]
                  • FKRP-CDG (cong. muscular dystrophy spectrum)
                    • Muscular dystrophy, congenital, type 1C (GDGDB) [FKRP]
                    • Muscular dystrophy, limb-girdle, type 2I (GDGDB) [FKRP]