Legend:

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

'CDG-IIb' 'GCS1-CDG'  (Integration tree)

Pathogenesis (traditional nomenclature)

• Genetic disorders of glycan synthesis (traditional nomenclature)
  • Defects in N-glycan biosynthesis
    • Disorders of N-linked glycosylation - Congenital disorders of glycosylation (CDGs)
      • Type II CDGs
        • CDG-IIb (GDGDB) [GCS1]

Pathogenesis (new nomenclature)

• Genetic disorders of glycan synthesis (new nomenclature)
  • Congenital disorders of glycosylation (CDGs)
    • Defects in protein N-glycosylation
      • Defects in N-glycosylation
        • Defects in N-glycan trimming
          • GCS1-CDG (GDGDB) [GCS1]

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

• Genetic disorders of glycan synthesis (by systems, signs and symptoms)
  • Diseases
    • Digestive System Diseases
      • Liver Diseases
        • Hepatomegaly
          • GCS1-CDG (GDGDB) [GCS1]
    • Female Urogenital Diseases and Pregnancy Complications
      • Female Urogenital Diseases
        • Urogenital Abnormalities
          • GCS1-CDG (GDGDB) [GCS1]
    • Musculoskeletal Diseases
      • Bone Diseases
        • Spinal Diseases
          • Spinal Curvatures
            • Scoliosis
              • GCS1-CDG (GDGDB) [GCS1]
      • Musculoskeletal Abnormalities
        • Craniofacial Abnormalities
          • Maxillofacial Abnormalities
            • GCS1-CDG (GDGDB) [GCS1]
    • Nervous System Diseases
      • Neurologic Manifestations
        • Neuromuscular Manifestations
          • Muscle Hypotonia
            • GCS1-CDG (GDGDB) [GCS1]
        • Seizures
          • GCS1-CDG (GDGDB) [GCS1]
    • Pathological Conditions, Signs and Symptoms
      • Signs and Symptoms
        • Edema
          • GCS1-CDG (GDGDB) [GCS1]
    • Respiratory Tract Diseases
      • Respiration Disorders
        • Apnea
          • GCS1-CDG (GDGDB) [GCS1]
        • Respiratory Insufficiency
          • Hypoventilation
            • GCS1-CDG (GDGDB) [GCS1]
          • GCS1-CDG (GDGDB) [GCS1]
  • Psychiatry and Psychology
    • Mental Disorders
      • Mental Disorders Diagnosed in Childhood
        • Feeding and Eating Disorders of Childhood
          • GCS1-CDG (GDGDB) [GCS1]