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)
            • Psychiatry and Psychology
              • Mental Disorders
                • Mental Disorders Diagnosed in Childhood
                  • Motor Skills Disorders
                    • PMM2-CDG (GDGDB) [PMM2]
                      • PMM2-CDG, late-infantile and childhood ataxia-intellectual disability stage [PMM2]
                    • ALG6-CDG (GDGDB) [ALG6]
                    • ALG12-CDG (GDGDB) [ALG12]
                    • B4GALT1-CDG (GDGDB) [B4GALT1]
                    • COG1-CDG [COG1]
                    • 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]
                    • 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]
                    • Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
                    • ST3GAL5-CDG [SIAT9]
                    • SRD5A3-CDG [SRD5A3]
                    • DDOST-CDG [DDOST]
                    • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
                    • Hyperphosphatasia with mental retardation syndrome 1 [PIGV]
      • Lysosomal Storage Diseases (degradation)
        • Hereditary disorders by systems
          • Genetic disorders of glycan degradation (by systems, signs and symptoms)
            • Psychiatry and Psychology
              • Mental Disorders
                • Mental Disorders Diagnosed in Childhood
                  • Motor Skills Disorders
                    • Aspartylglucosaminuria (GDGDB) [AGA]
                    • Fucosidosis (GDGDB) [FUCA1]
                    • Alpha-mannosidosis (GDGDB) [MAN2B1]
                    • Beta-mannosidosis (GDGDB) [MANBA]
                    • Mucolipidosis II (alpha/beta) (GDGDB) [GNPTAB]
                    • Tay-Sachs disease (GDGDB) [HEXA]
                    • Sandhoff disease (GDGDB) [HEXB]
                    • GM2-gangliosidosis, AB variant (GDGDB) [GM2A]
                    • Gaucher disease, type II (GDGDB) [GBA]
                    • Krabbe disease (GDGDB) [GALC]
                      • Krabbe disease, infantile form [GALC]
                    • Metachromatic leukodystrophy (GDGDB) [ARSA]
                    • Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
                    • Niemann-Pick disease, type A (GDGDB) [SMPD1]
                    • Niemann-Pick disease, type C1 (GDGDB) [NPC1]
                    • Niemann-Pick disease, type C2 (GDGDB) [NPC2]