Legend:

• Concept Types
  • target (clinical findings)
  • classification term
  • pathway-based classification term
  • clinical findings
  • multiple types disease
  • single disease
  • disease type

'Brain Diseases'  (Integration tree)

Pathogenesis (traditional nomenclature)

• Genetic disorders of glycan synthesis (traditional nomenclature)

Pathogenesis (new nomenclature)

• Genetic disorders of glycan synthesis (new nomenclature)

Genetic disorders of glycan synthesis (by systems, signs and symptoms)

• 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]