Legend:

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

• Congenital, Hereditary, and Neonatal Diseases and Abnormalities related to Glycans
  • Genetic Diseases, Inborn
    • Metabolism, Inborn Errors
      • Carbohydrate Metabolism, Inborn Errors (synthesis)
        • Pathogenesis
          • 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]
          • 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]
        • Hereditary disorders by systems
          • 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]