Legend:

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

'Pathologic Processes'  (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
    • Pathological Conditions, Signs and Symptoms
      • Pathologic Processes
        • Growth Disorders
          • Fetal Growth Retardation
            • Diastrophic dysplasia [SLC26A2]
            • Achondrogenesis type IB [SLC26A2]
            • B3GALTL-CDG [B3GALTL]
            • Lysyl hydroxylase 3 deficiency (GDGDB) [PLOD3]
            • Multiple congenital anomalies-hypotonia-seizures syndrome 1 [PIGN]
          • PMM2-CDG (GDGDB) [PMM2]
            • PMM2-CDG, infantile multisystem stage [PMM2]
          • MPI-CDG (GDGDB) [MPI]
          • ALG3-CDG (GDGDB) [ALG3]
          • MPDU1-CDG (GDGDB) [MPDU1]
          • ALG12-CDG (GDGDB) [ALG12]
          • ALG9-CDG (GDGDB) [ALG9]
          • DOLK-CDG [TMEM15]
          • RFT1-CDG [RFT1]
          • MGAT2-CDG (GDGDB) [MGAT2]
          • SLC35C1-CDG (GDGDB) [SLC35C1]
          • COG7-CDG (GDGDB) [COG7]
          • COG1-CDG [COG1]
          • COG4-CDG [COG4]
          • ATP6VOA2-CDG [ATP6V0A2]
          • Diastrophic dysplasia [SLC26A2]
          • Achondrogenesis type IB [SLC26A2]
          • B3GALTL-CDG [B3GALTL]
          • Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
          • Lysyl hydroxylase 3 deficiency (GDGDB) [PLOD3]
          • TMEM165-CDG [TMEM165]
          • Temtamy preaxial brachydactyly syndrome [CHSY1]
        • Hyperbilirubinemia
          • Jaundice
            • DPAGT1-CDG (GDGDB) [DPAGT1]
            • COG7-CDG (GDGDB) [COG7]
            • SEC23B-CDG (GDGDB) [SEC23B]
        • Hemolysis
          • Paroxysmal nocturnal hemoglobinuria, somatic (SOMATIC MUTATION) (GDGDB) [PIGA]
        • Hemorrhage
          • PMM2-CDG (GDGDB) [PMM2]
          • MGAT2-CDG (GDGDB) [MGAT2]
          • SLC35A1-CDG [SLC35A1]
          • Gastrointestinal Hemorrhage
            • MPI-CDG (GDGDB) [MPI]
            • ALG11-CDG [ALG11]
          • ALG13-CDG [ALG13]
          • COG6-CDG [COG6]
          • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
        • Inflammation
          • Systemic Inflammatory Response Syndrome
            • Sepsis
              • COG4-CDG [COG4]