Legend:

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

'Nervous System Malformations'  (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
      • Nervous System Malformations
        • Malformations of Cortical Development
          • Lissencephaly
            • Cobblestone Lissencephaly
              • POMT1/POMT2-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMT1,POMT2]
              • POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
              • Fukuyama congenital muscular dystrophy (GDGDB) [FKTN]
          • Neuronal Migration Disorders
            • POMT1/POMT2-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMT1,POMT2]
            • POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
            • Fukuyama congenital muscular dystrophy (GDGDB) [FKTN]
            • LARGE-CDG (cong. muscular dystrophy spectrum) [LARGE]
            • Cobblestone Lissencephaly
              • POMT1/POMT2-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMT1,POMT2]
              • POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
              • Fukuyama congenital muscular dystrophy (GDGDB) [FKTN]
          • Macrocephaly
            • B4GALT1-CDG (GDGDB) [B4GALT1]
            • POMT1/POMT2-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMT1,POMT2]
            • POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
            • B3GALTL-CDG [B3GALTL]
          • Microcephaly
            • ALG3-CDG (GDGDB) [ALG3]
            • DPM1-CDG (GDGDB) [DPM1]
            • ALG12-CDG (GDGDB) [ALG12]
            • DPAGT1-CDG (GDGDB) [DPAGT1]
            • ALG1-CDG (GDGDB) [ALG1]
            • ALG9-CDG (GDGDB) [ALG9]
            • DOLK-CDG [TMEM15]
            • RFT1-CDG [RFT1]
            • SLC35C1-CDG (GDGDB) [SLC35C1]
            • COG1-CDG [COG1]
            • COG8-CDG [COG8]
            • COG4-CDG [COG4]
            • ATP6VOA2-CDG [ATP6V0A2]
            • POMT1/POMT2-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMT1,POMT2]
            • POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
            • Muscular dystrophy, congenital, type 1C (GDGDB) [FKRP]
            • ALG11-CDG [ALG11]
            • ALG13-CDG [ALG13]
            • TMEM165-CDG [TMEM165]
            • COG6-CDG [COG6]
          • 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]
          • LARGE-CDG (cong. muscular dystrophy spectrum) [LARGE]
        • Central Nervous System Cysts
          • 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]
          • Lysyl hydroxylase 3 deficiency (GDGDB) [PLOD3]
        • PMM2-CDG (GDGDB) [PMM2]
          • PMM2-CDG, infantile multisystem stage [PMM2]
        • ATP6VOA2-CDG [ATP6V0A2]
        • POMT1/POMT2-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMT1,POMT2]
        • POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
        • Muscular dystrophy, congenital, type 1C (GDGDB) [FKRP]
        • LARGE-CDG (cong. muscular dystrophy spectrum) [LARGE]
        • B3GALTL-CDG [B3GALTL]
        • SRD5A3-CDG [SRD5A3]
        • Multiple congenital anomalies-hypotonia-seizures syndrome 1 [PIGN]