Legend:

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

'CDG-In' 'RFT1-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 I CDGs
        • CDG-In [RFT1]

Pathogenesis (new nomenclature)

• Genetic disorders of glycan synthesis (new nomenclature)
  • Congenital disorders of glycosylation (CDGs)
    • Defects in protein N-glycosylation
      • Defects in lipid-linked oligosaccharide biosynthesis
        • RFT1-CDG [RFT1]

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
          • RFT1-CDG [RFT1]
    • Eye Diseases
      • Ocular Motility Disorders
        • RFT1-CDG [RFT1]
    • Hemic and Lymphatic Diseases
      • Hematologic Diseases
        • Blood Coagulation Disorders
          • RFT1-CDG [RFT1]
    • Musculoskeletal Diseases
      • Musculoskeletal Abnormalities
        • Craniofacial Abnormalities
          • Microcephaly
            • RFT1-CDG [RFT1]
    • Nervous System Diseases
      • Central Nervous System Diseases
        • Ocular Motility Disorders
          • RFT1-CDG [RFT1]
      • Nervous System Malformations
        • Malformations of Cortical Development
          • Microcephaly
            • RFT1-CDG [RFT1]
      • Neurologic Manifestations
        • Neuromuscular Manifestations
          • Muscle Hypotonia
            • RFT1-CDG [RFT1]
        • Dyskinesias
          • Myoclonus
            • RFT1-CDG [RFT1]
        • Seizures
          • RFT1-CDG [RFT1]
      • Cranial Nerve Diseases
        • Ocular Motility Disorders
          • RFT1-CDG [RFT1]
    • Otorhinolaryngologic Diseases
      • Ear Diseases
        • Hearing Disorders
          • Hearing Loss
            • RFT1-CDG [RFT1]
    • Pathological Conditions, Signs and Symptoms
      • Pathologic Processes
        • Growth Disorders
          • RFT1-CDG [RFT1]
      • Signs and Symptoms
        • Failure to Thrive
          • RFT1-CDG [RFT1]
  • Psychiatry and Psychology
    • Mental Disorders
      • Mental Disorders Diagnosed in Childhood
        • Developmental Disabilities
          • RFT1-CDG [RFT1]
        • Feeding and Eating Disorders of Childhood
          • RFT1-CDG [RFT1]