Legend:

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

'CDG-Ic' 'ALG6-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 I CDGs
        • CDG-Ic (GDGDB) [ALG6]

Pathogenesis (new nomenclature)

• Genetic disorders of glycan synthesis (new nomenclature)
  • Congenital disorders of glycosylation (CDGs)
    • Defects in protein N-glycosylation
      • Defects in lipid-linked oligosaccharide biosynthesis
        • ALG6-CDG (GDGDB) [ALG6]

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

• Genetic disorders of glycan synthesis (by systems, signs and symptoms)
  • Diseases
    • Cardiovascular Diseases
      • Vascular Diseases
        • Embolism and Thrombosis
          • Thrombosis
            • Venous Thrombosis
              • ALG6-CDG (GDGDB) [ALG6]
    • Digestive System Diseases
      • Gastrointestinal Diseases
        • Intestinal Diseases
          • Protein-Losing Enteropathies
            • ALG6-CDG (GDGDB) [ALG6]
    • Endocrine System Diseases
      • Gonadal Disorders
        • Disorders of Sex Development
          • Adrenogenital Syndrome
            • Hyperandrogenism
              • ALG6-CDG (GDGDB) [ALG6]
          • ALG6-CDG (GDGDB) [ALG6]
        • Puberty, Delayed
          • ALG6-CDG (GDGDB) [ALG6]
      • ALG6-CDG (GDGDB) [ALG6]
    • Eye Diseases
      • Retinal Diseases
        • Retinal Degeneration
          • ALG6-CDG (GDGDB) [ALG6]
      • Refractive Errors
        • Hyperopia
          • ALG6-CDG (GDGDB) [ALG6]
      • Ocular Motility Disorders
        • Strabismus
          • ALG6-CDG (GDGDB) [ALG6]
    • Hemic and Lymphatic Diseases
      • Hematologic Diseases
        • Blood Coagulation Disorders
          • ALG6-CDG (GDGDB) [ALG6]
    • Musculoskeletal Diseases
      • Musculoskeletal Abnormalities
        • Limb Deformities, Congenital
          • Brachydactyly
            • ALG6-CDG (GDGDB) [ALG6]
    • Nervous System Diseases
      • Central Nervous System Diseases
        • Brain Diseases
          • Intracranial Hypertension
            • Pseudotumor Cerebri
              • ALG6-CDG (GDGDB) [ALG6]
          • Cerebellar Diseases
            • ALG6-CDG (GDGDB) [ALG6]
          • Epilepsy
            • ALG6-CDG (GDGDB) [ALG6]
      • Neurologic Manifestations
        • Neurobehavioral Manifestations
          • Psychomotor Disorders
            • ALG6-CDG (GDGDB) [ALG6]
          • Communication Disorders
            • Language Disorders
              • Speech Disorders
                • ALG6-CDG (GDGDB) [ALG6]
          • Intellectual Disability
            • ALG6-CDG (GDGDB) [ALG6]
        • Neuromuscular Manifestations
          • Muscle Hypotonia
            • ALG6-CDG (GDGDB) [ALG6]
        • Dyskinesias
          • Ataxia
            • ALG6-CDG (GDGDB) [ALG6]
          • Myoclonus
            • ALG6-CDG (GDGDB) [ALG6]
        • Seizures
          • ALG6-CDG (GDGDB) [ALG6]
      • Cranial Nerve Diseases
        • Ocular Motility Disorders
          • Strabismus
            • ALG6-CDG (GDGDB) [ALG6]
    • Pathological Conditions, Signs and Symptoms
      • Signs and Symptoms
        • Mobility Limitation
          • ALG6-CDG (GDGDB) [ALG6]
        • Virilism
          • ALG6-CDG (GDGDB) [ALG6]
  • Psychiatry and Psychology
    • Mental Disorders
      • Mental Disorders Diagnosed in Childhood
        • Developmental Disabilities
          • ALG6-CDG (GDGDB) [ALG6]
        • Motor Skills Disorders
          • ALG6-CDG (GDGDB) [ALG6]
        • Intellectual Disability
          • ALG6-CDG (GDGDB) [ALG6]