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 (new nomenclature)
            • Congenital disorders of glycosylation (CDGs)
              • Defects in protein N-glycosylation
                • Defects in N-glycosylation
                  • Defects in oligosaccharyltransferase subunits
                    • DDOST-CDG [DDOST]
        • Hereditary disorders by systems
          • Genetic disorders of glycan synthesis (by systems, signs and symptoms)
            • Diseases
              • Digestive System Diseases
                • Liver Diseases
                  • DDOST-CDG [DDOST]
              • Eye Diseases
                • Ocular Motility Disorders
                  • Strabismus
                    • DDOST-CDG [DDOST]
              • Hemic and Lymphatic Diseases
                • Hematologic Diseases
                  • Blood Coagulation Disorders
                    • Coagulation Protein Disorders
                      • DDOST-CDG [DDOST]
              • Musculoskeletal Diseases
                • Bone Diseases
                  • Bone Diseases, Metabolic
                    • Osteoporosis
                      • DDOST-CDG [DDOST]
              • Nervous System Diseases
                • Demyelinating Diseases
                  • Hereditary Central Nervous System Demyelinating Diseases
                    • DDOST-CDG [DDOST]
                • Neurodegenerative Diseases
                  • Heredodegenerative Disorders, Nervous System
                    • DDOST-CDG [DDOST]
                • Neurologic Manifestations
                  • Neurobehavioral Manifestations
                    • Psychomotor Disorders
                      • DDOST-CDG [DDOST]
                    • Communication Disorders
                      • Language Disorders
                        • Speech Disorders
                          • DDOST-CDG [DDOST]
                  • Neuromuscular Manifestations
                    • Muscle Hypotonia
                      • DDOST-CDG [DDOST]
                • Cranial Nerve Diseases
                  • Ocular Motility Disorders
                    • Strabismus
                      • DDOST-CDG [DDOST]
              • Otorhinolaryngologic Diseases
                • Ear Diseases
                  • Otitis
                    • DDOST-CDG [DDOST]
                • Pharyngeal Diseases
                  • Deglutition Disorders
                    • DDOST-CDG [DDOST]
              • Pathological Conditions, Signs and Symptoms
                • Signs and Symptoms
                  • Signs and Symptoms, Digestive
                    • Constipation
                      • DDOST-CDG [DDOST]
                  • Failure to Thrive
                    • DDOST-CDG [DDOST]
            • Psychiatry and Psychology
              • Mental Disorders
                • Mental Disorders Diagnosed in Childhood
                  • Developmental Disabilities
                    • DDOST-CDG [DDOST]
                  • Motor Skills Disorders
                    • DDOST-CDG [DDOST]