Legend:

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

'CDG-IIe' 'COG7-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-IIe (GDGDB) [COG7]

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
          • COG7-CDG (GDGDB) [COG7]

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

• Genetic disorders of glycan synthesis (by systems, signs and symptoms)
  • Diseases
    • Digestive System Diseases
      • Liver Diseases
        • Hepatomegaly
          • COG7-CDG (GDGDB) [COG7]
    • Hemic and Lymphatic Diseases
      • Lymphatic Diseases
        • Splenic Diseases
          • COG7-CDG (GDGDB) [COG7]
    • Musculoskeletal Diseases
      • Musculoskeletal Abnormalities
        • Craniofacial Abnormalities
          • Maxillofacial Abnormalities
            • COG7-CDG (GDGDB) [COG7]
            • Jaw Abnormalities
              • Micrognathism
                • COG7-CDG (GDGDB) [COG7]
        • COG7-CDG (GDGDB) [COG7]
    • Nervous System Diseases
      • Central Nervous System Diseases
        • Brain Diseases
          • Epilepsy
            • COG7-CDG (GDGDB) [COG7]
      • Neurodegenerative Diseases
        • Heredodegenerative Disorders, Nervous System
          • COG7-CDG (GDGDB) [COG7]
      • Neurologic Manifestations
        • Neurobehavioral Manifestations
          • Psychomotor Disorders
            • COG7-CDG (GDGDB) [COG7]
        • Neuromuscular Manifestations
          • Muscle Hypotonia
            • COG7-CDG (GDGDB) [COG7]
        • Seizures
          • COG7-CDG (GDGDB) [COG7]
    • Pathological Conditions, Signs and Symptoms
      • Pathologic Processes
        • Growth Disorders
          • COG7-CDG (GDGDB) [COG7]
        • Hyperbilirubinemia
          • Jaundice
            • COG7-CDG (GDGDB) [COG7]
      • Signs and Symptoms
        • Body Temperature Changes
          • Fever
            • COG7-CDG (GDGDB) [COG7]
        • Failure to Thrive
          • COG7-CDG (GDGDB) [COG7]
    • Skin and Connective Tissue Diseases
      • Connective Tissue Diseases
        • Cutis Laxa
          • COG7-CDG (GDGDB) [COG7]
    • Stomatognathic Diseases
      • Stomatognathic System Abnormalities
        • Maxillofacial Abnormalities
          • Jaw Abnormalities
            • Micrognathism
              • COG7-CDG (GDGDB) [COG7]
  • Psychiatry and Psychology
    • Mental Disorders
      • Mental Disorders Diagnosed in Childhood
        • Feeding and Eating Disorders of Childhood
          • COG7-CDG (GDGDB) [COG7]