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
              • Musculoskeletal Diseases
                • Muscular Diseases
                  • Muscle Spasticity
                    • POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
                  • Muscle Weakness
                    • PMM2-CDG (GDGDB) [PMM2]
                      • PMM2-CDG, infantile multisystem stage [PMM2]
                    • B4GALT1-CDG (GDGDB) [B4GALT1]
                    • POMT1/POMT2-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMT1,POMT2]
                    • POMGNT1-CDG (cong. muscular dystrophy spectrum) (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]
                    • LARGE-CDG (cong. muscular dystrophy spectrum) [LARGE]
                    • Duchenne muscular dystrophy [DMD]
                    • Hereditary inclusion body myopathy type 2 [GNE]
                    • Nonaka myopathy (GDGDB) [GNE]
                    • Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
                    • DPM3-CDG [DPM3]
                    • TMEM165-CDG [TMEM165]
                    • Myasthenia, congenital, with tubular aggregates 1 [GFPT1]
                    • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
                  • Muscular Disorders, Atrophic
                    • Muscular Dystrophies
                      • POMT1/POMT2-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMT1,POMT2]
                      • POMGNT1-CDG (cong. muscular dystrophy spectrum) (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]
                      • LARGE-CDG (cong. muscular dystrophy spectrum) [LARGE]
                      • Duchenne muscular dystrophy [DMD]
                  • DPM3-CDG [DPM3]
              • Nervous System Diseases
                • Neuromuscular Diseases
                  • Muscular Diseases
                    • Muscular Disorders, Atrophic
                      • Muscular Dystrophies
                        • POMT1/POMT2-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMT1,POMT2]
                        • POMGNT1-CDG (cong. muscular dystrophy spectrum) (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]
                        • LARGE-CDG (cong. muscular dystrophy spectrum) [LARGE]
                        • Duchenne muscular dystrophy [DMD]
      • Lysosomal Storage Diseases (degradation)
        • Hereditary disorders by systems
          • Genetic disorders of glycan degradation (by systems, signs and symptoms)
            • Diseases
              • Musculoskeletal Diseases
                • Muscular Diseases
                  • Muscle Rigidity
                    • Krabbe disease (GDGDB) [GALC]
                      • Krabbe disease, infantile form [GALC]
                      • Krabbe disease, late-onset form [GALC]
                    • Metachromatic leukodystrophy (GDGDB) [ARSA]
                    • Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
                  • Muscle Spasticity
                    • Fucosidosis (GDGDB) [FUCA1]
                    • Tay-Sachs disease (GDGDB) [HEXA]
                    • Metachromatic leukodystrophy (GDGDB) [ARSA]
                    • Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
                    • Niemann-Pick disease, type A (GDGDB) [SMPD1]
                  • Muscle Weakness
                    • Alpha-mannosidosis (GDGDB) [MAN2B1]
                    • 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]
                      • Krabbe disease, infantile form [GALC]
                      • Krabbe disease, late-onset form [GALC]
                    • Metachromatic leukodystrophy (GDGDB) [ARSA]
                    • Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
                    • Pompe disease (GDGDB) [GAA]