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
                  • Neuromuscular Manifestations
                    • Muscle Hypertonia
                      • Muscle Spasticity
                        • POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
                      • MPDU1-CDG (GDGDB) [MPDU1]
                      • DPAGT1-CDG (GDGDB) [DPAGT1]
                    • Muscle Hypotonia
                      • PMM2-CDG (GDGDB) [PMM2]
                        • PMM2-CDG, infantile multisystem stage [PMM2]
                        • PMM2-CDG, late-infantile and childhood ataxia-intellectual disability stage [PMM2]
                      • ALG6-CDG (GDGDB) [ALG6]
                      • ALG3-CDG (GDGDB) [ALG3]
                      • DPM1-CDG (GDGDB) [DPM1]
                      • ALG12-CDG (GDGDB) [ALG12]
                      • ALG8-CDG (GDGDB) [ALG8]
                      • DPAGT1-CDG (GDGDB) [DPAGT1]
                      • ALG1-CDG (GDGDB) [ALG1]
                      • ALG9-CDG (GDGDB) [ALG9]
                      • DOLK-CDG [TMEM15]
                      • RFT1-CDG [RFT1]
                      • GCS1-CDG (GDGDB) [GCS1]
                      • SLC35C1-CDG (GDGDB) [SLC35C1]
                      • B4GALT1-CDG (GDGDB) [B4GALT1]
                      • COG7-CDG (GDGDB) [COG7]
                      • COG1-CDG [COG1]
                      • COG8-CDG [COG8]
                      • COG5-CDG [COG5]
                      • COG4-CDG [COG4]
                      • ATP6VOA2-CDG [ATP6V0A2]
                      • 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]
                      • B4GALT7-CDG [B4GALT7]
                      • Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
                      • ST3GAL5-CDG [SIAT9]
                      • ALG11-CDG [ALG11]
                      • SRD5A3-CDG [SRD5A3]
                      • DDOST-CDG [DDOST]
                      • ALG13-CDG [ALG13]
                      • TMEM165-CDG [TMEM165]
                      • COG6-CDG [COG6]
                      • Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects [B3GAT3]
                      • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
                      • Hyperphosphatasia with mental retardation syndrome 1 [PIGV]
                      • Multiple congenital anomalies-hypotonia-seizures syndrome 1 [PIGN]
                    • Muscular Atrophy
                      • PMM2-CDG (GDGDB) [PMM2]
                      • MGAT2-CDG (GDGDB) [MGAT2]
                      • 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]
                      • Myasthenia, congenital, with tubular aggregates 1 [GFPT1]
                    • 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]
      • Lysosomal Storage Diseases (degradation)
        • Hereditary disorders by systems
          • Genetic disorders of glycan degradation (by systems, signs and symptoms)
            • Diseases
              • Nervous System Diseases
                • Neurologic Manifestations
                  • Neuromuscular Manifestations
                    • Fasciculation
                      • Gaucher disease, type II (GDGDB) [GBA]
                      • Combined saposin deficiency (GDGDB) [PSAP]
                    • Muscle Hypertonia
                      • 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 Hypotonia
                      • Beta-mannosidosis (GDGDB) [MANBA]
                      • Mucolipidosis II (alpha/beta) (GDGDB) [GNPTAB]
                      • Combined saposin deficiency (GDGDB) [PSAP]
                      • Wolman disease (GDGDB) [LIPA]
                      • Pompe disease (GDGDB) [GAA]
                    • 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]
                    • Muscular Atrophy
                      • Metachromatic leukodystrophy (GDGDB) [ARSA]
                      • Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]