Legend:

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

'Amish infantile epilepsy syndrome' 'ST3GAL5-CDG'  (Integration tree)

Pathogenesis (traditional nomenclature)

• Genetic disorders of glycan synthesis (traditional nomenclature)
  • Defects in glycolipid synthesis
    • Defects in GSL synthesis
      • Amish infantile epilepsy syndrome [SIAT9]

Pathogenesis (new nomenclature)

• 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]

Genetic disorders of glycan synthesis (by systems, signs and symptoms)

• 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]