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 II CDGs
                  • CDG-IIh [COG8]
          • Genetic disorders of glycan synthesis (new nomenclature)
            • Congenital disorders of glycosylation (CDGs)
              • Defects in multiple glycosylation and other pathways
                • Defects in vesicular transport
                  • Defects in COG protein complex
                    • COG8-CDG [COG8]
        • Hereditary disorders by systems
          • Genetic disorders of glycan synthesis (by systems, signs and symptoms)
            • Diseases
              • Eye Diseases
                • Eyelid Diseases
                  • COG8-CDG [COG8]
                • Ocular Motility Disorders
                  • Strabismus
                    • Esotropia
                      • COG8-CDG [COG8]
              • Hemic and Lymphatic Diseases
                • Hematologic Diseases
                  • Blood Coagulation Disorders
                    • Coagulation Protein Disorders
                      • COG8-CDG [COG8]
                    • COG8-CDG [COG8]
              • Musculoskeletal Diseases
                • Musculoskeletal Abnormalities
                  • Craniofacial Abnormalities
                    • Maxillofacial Abnormalities
                      • COG8-CDG [COG8]
                    • Microcephaly
                      • COG8-CDG [COG8]
              • Nervous System Diseases
                • Central Nervous System Diseases
                  • Brain Diseases
                    • Cerebellar Diseases
                      • COG8-CDG [COG8]
                    • Epilepsy
                      • COG8-CDG [COG8]
                • Nervous System Malformations
                  • Malformations of Cortical Development
                    • Microcephaly
                      • COG8-CDG [COG8]
                • Neurodegenerative Diseases
                  • Heredodegenerative Disorders, Nervous System
                    • COG8-CDG [COG8]
                • Neurologic Manifestations
                  • Neurobehavioral Manifestations
                    • Lethargy
                      • COG8-CDG [COG8]
                    • Psychomotor Disorders
                      • COG8-CDG [COG8]
                    • Intellectual Disability
                      • COG8-CDG [COG8]
                  • Neuromuscular Manifestations
                    • Muscle Hypotonia
                      • COG8-CDG [COG8]
                  • Dyskinesias
                    • Ataxia
                      • COG8-CDG [COG8]
                    • Myoclonus
                      • COG8-CDG [COG8]
                  • Seizures
                    • COG8-CDG [COG8]
                • Neuromuscular Diseases
                  • Peripheral Nervous System Diseases
                    • Polyneuropathy
                      • COG8-CDG [COG8]
                • Cranial Nerve Diseases
                  • Ocular Motility Disorders
                    • Strabismus
                      • Esotropia
                        • COG8-CDG [COG8]
              • Pathological Conditions, Signs and Symptoms
                • Signs and Symptoms
                  • Failure to Thrive
                    • COG8-CDG [COG8]
            • Psychiatry and Psychology
              • Mental Disorders
                • Mental Disorders Diagnosed in Childhood
                  • Intellectual Disability
                    • COG8-CDG [COG8]