Legend:

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

'CDG-IIh' 'COG8-CDG'  (Integration tree)

Pathogenesis (traditional nomenclature)

• 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]

Pathogenesis (new nomenclature)

• 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]

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

• 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]