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
                • Central Nervous System Diseases
                  • Brain Diseases
                    • Intracranial Hypertension
                      • Pseudotumor Cerebri
                        • ALG6-CDG (GDGDB) [ALG6]
                      • Hydrocephalus
                        • POMT1/POMT2-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMT1,POMT2]
                        • POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
                        • Fukuyama congenital muscular dystrophy (GDGDB) [FKTN]
                        • ALG13-CDG [ALG13]
                        • Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects [B3GAT3]
                    • Cerebellar Diseases
                      • 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]
                      • ALG3-CDG (GDGDB) [ALG3]
                      • ALG1-CDG (GDGDB) [ALG1]
                      • B4GALT1-CDG (GDGDB) [B4GALT1]
                      • COG8-CDG [COG8]
                      • COG5-CDG [COG5]
                      • 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, congenital, type 1C (GDGDB) [FKRP]
                      • LARGE-CDG (cong. muscular dystrophy spectrum) [LARGE]
                      • SRD5A3-CDG [SRD5A3]
                    • Epilepsy
                      • Epilepsies, Myoclonic
                        • ST3GAL5-CDG [SIAT9]
                      • Epilepsy, Generalized
                        • Spasms, Infantile
                          • ALG3-CDG (GDGDB) [ALG3]
                          • ALG2-CDG (GDGDB) [ALG2]
                          • DPAGT1-CDG (GDGDB) [DPAGT1]
                      • Status Epilepticus
                        • ST3GAL5-CDG [SIAT9]
                      • Seizures
                        • ST3GAL5-CDG [SIAT9]
                      • PMM2-CDG (GDGDB) [PMM2]
                      • ALG6-CDG (GDGDB) [ALG6]
                      • ALG3-CDG (GDGDB) [ALG3]
                      • ALG1-CDG (GDGDB) [ALG1]
                      • MGAT2-CDG (GDGDB) [MGAT2]
                      • COG7-CDG (GDGDB) [COG7]
                      • COG8-CDG [COG8]
                      • ATP6VOA2-CDG [ATP6V0A2]
                      • ST3GAL5-CDG [SIAT9]
                      • ALG11-CDG [ALG11]
                      • ALG13-CDG [ALG13]
                      • TMEM165-CDG [TMEM165]
                      • Mental retardation, autosomal recessive 15 [MAN1B1]
                      • Hyperphosphatasia with mental retardation syndrome 1 [PIGV]
                    • Cerebrovascular Disorders
                      • 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]
                      • DPM3-CDG [DPM3]
                      • PGM1-CDG [PGM1]
                    • Hydrocephalus
                      • 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]
                      • B3GALTL-CDG [B3GALTL]
                      • ALG13-CDG [ALG13]
                      • Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects [B3GAT3]
      • Lysosomal Storage Diseases (degradation)
        • Hereditary disorders by systems
          • Genetic disorders of glycan degradation (by systems, signs and symptoms)
            • Diseases
              • Nervous System Diseases
                • Central Nervous System Diseases
                  • Brain Diseases
                    • Brain Diseases, Metabolic
                      • Brain Diseases, Metabolic, Inborn
                        • Aspartylglucosaminuria (GDGDB) [AGA]
                        • Fucosidosis (GDGDB) [FUCA1]
                        • Sialidosis (GDGDB) [NEU1]
                        • Mucolipidosis II (alpha/beta) (GDGDB) [GNPTAB]
                        • Mucolipidosis III (alpha/beta) (GDGDB) [GNPTAB]
                        • 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]
                        • Fabry disease (GDGDB) [GLA]
                        • Gaucher disease, type II (GDGDB) [GBA]
                        • Gaucher disease, type III (GDGDB) [GBA]
                        • Gaucher disease, atypical, due to saposin C deficiency (GDGDB) [PSAP]
                        • Krabbe disease (GDGDB) [GALC]
                        • Multiple sulfatase deficiency (GDGDB) [SUMF1]
                        • 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]
                        • Farber Lipogranulomatosis (GDGDB) [ASAH1]
                    • Dementia
                      • Gaucher disease, type II (GDGDB) [GBA]
                      • Gaucher disease, type III (GDGDB) [GBA]
                      • Metachromatic leukodystrophy (GDGDB) [ARSA]
                      • Metachromatic leukodystrophy, due to saposin B deficiency (GDGDB) [PSAP]
                      • Niemann-Pick disease, type C1 (GDGDB) [NPC1]
                      • Niemann-Pick disease, type C2 (GDGDB) [NPC2]
                    • Intracranial Hypertension
                      • Hydrocephalus
                        • Alpha-mannosidosis (GDGDB) [MAN2B1]
                        • Hurler syndrome (GDGDB) [IDUA]
                        • Hurler-Scheie syndrome (GDGDB) [IDUA]
                        • Scheie syndrome (GDGDB) [IDUA]
                        • Mucopolysaccharidosis II (GDGDB) [IDS]
                        • Sanfilippo syndrome A (GDGDB) [SGSH]
                        • Sanfilippo syndrome B (GDGDB) [NAGLU]
                        • Sanfilippo syndrome C (GDGDB) [HGSNAT]
                        • Sanfilippo syndrome D (GDGDB) [GNS]
                        • Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
                        • Mucopolysaccharidosis VII (GDGDB) [GUSB]
                    • Cerebrovascular Disorders
                      • Stroke
                        • Fabry disease (GDGDB) [GLA]