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 glycolipid synthesis
              • Defects in GSL synthesis
                • Amish infantile epilepsy syndrome [SIAT9]
          • Genetic disorders of glycan synthesis (new nomenclature)
            • Congenital disorders of glycosylation (CDGs)
              • Defects in glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation
                • Disorders of glycosphingolipid biosynthesis
                  • ST3GAL5-CDG [SIAT9]
        • Hereditary disorders by systems
          • Genetic disorders of glycan synthesis (by systems, signs and symptoms)
            • Diseases
              • Eye Diseases
                • Eye Diseases, Hereditary
                  • Optic Atrophies, Hereditary
                    • ST3GAL5-CDG [SIAT9]
                • Vision Disorders
                  • Blindness
                    • ST3GAL5-CDG [SIAT9]
                • Optic Nerve Diseases
                  • Optic Atrophy
                    • Optic Atrophies, Hereditary
                      • ST3GAL5-CDG [SIAT9]
              • Nervous System Diseases
                • Central Nervous System Diseases
                  • Brain Diseases
                    • Epilepsy
                      • Epilepsies, Myoclonic
                        • ST3GAL5-CDG [SIAT9]
                      • Status Epilepticus
                        • ST3GAL5-CDG [SIAT9]
                      • Seizures
                        • ST3GAL5-CDG [SIAT9]
                      • ST3GAL5-CDG [SIAT9]
                  • Movement Disorders
                    • Dyskinesias
                      • ST3GAL5-CDG [SIAT9]
                    • ST3GAL5-CDG [SIAT9]
                • Neurodegenerative Diseases
                  • Heredodegenerative Disorders, Nervous System
                    • ST3GAL5-CDG [SIAT9]
                • Neurologic Manifestations
                  • Neurobehavioral Manifestations
                    • Psychomotor Disorders
                      • ST3GAL5-CDG [SIAT9]
                    • Communication Disorders
                      • Language Disorders
                        • Speech Disorders
                          • ST3GAL5-CDG [SIAT9]
                    • Intellectual Disability
                      • ST3GAL5-CDG [SIAT9]
                  • Neuromuscular Manifestations
                    • Muscle Hypotonia
                      • ST3GAL5-CDG [SIAT9]
                  • Sensation Disorders
                    • Hearing Disorders
                      • Hearing Loss
                        • ST3GAL5-CDG [SIAT9]
                    • Vision Disorders
                      • Blindness
                        • ST3GAL5-CDG [SIAT9]
                  • Dyskinesias
                    • Myoclonus
                      • ST3GAL5-CDG [SIAT9]
                  • Seizures
                    • ST3GAL5-CDG [SIAT9]
                • Cranial Nerve Diseases
                  • Optic Nerve Diseases
                    • Optic Atrophy
                      • ST3GAL5-CDG [SIAT9]
                      • Optic Atrophies, Hereditary
                        • ST3GAL5-CDG [SIAT9]
              • Pathological Conditions, Signs and Symptoms
                • Signs and Symptoms
                  • Mobility Limitation
                    • ST3GAL5-CDG [SIAT9]
                  • Signs and Symptoms, Digestive
                    • Vomiting
                      • ST3GAL5-CDG [SIAT9]
                  • Failure to Thrive
                    • ST3GAL5-CDG [SIAT9]
            • Psychiatry and Psychology
              • Behavior and Behavior Mechanisms
                • Emotions
                  • Affect
                    • Irritable Mood
                      • ST3GAL5-CDG [SIAT9]
              • Mental Disorders
                • Mental Disorders Diagnosed in Childhood
                  • Developmental Disabilities
                    • ST3GAL5-CDG [SIAT9]
                  • Feeding and Eating Disorders of Childhood
                    • ST3GAL5-CDG [SIAT9]
                  • Motor Skills Disorders
                    • ST3GAL5-CDG [SIAT9]
                  • Intellectual Disability
                    • ST3GAL5-CDG [SIAT9]