Legend:

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

'Hereditary inclusion body myopathy type 2'  (Integration tree)

Pathogenesis (traditional nomenclature)

• Genetic disorders of glycan synthesis (traditional nomenclature)
  • Disorders of O-linked glycosylation
    • Defects in O-mannose glycans
      • Hereditary inclusion body myopathy type 2 [GNE]

Pathogenesis (new nomenclature)

• Genetic disorders of glycan synthesis (new nomenclature)
  • Congenital disorders of glycosylation (CDGs)
    • Defects in multiple glycosylation and other pathways
      • GNE-CDG (hereditary inclusion body myopathy)
        • Hereditary inclusion body myopathy type 2 [GNE]

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

• Genetic disorders of glycan synthesis (by systems, signs and symptoms)
  • Diseases
    • Musculoskeletal Diseases
      • Muscular Diseases
        • Muscle Weakness
          • Hereditary inclusion body myopathy type 2 [GNE]
    • Nervous System Diseases
      • Neurologic Manifestations
        • Neuromuscular Manifestations
          • Muscular Atrophy
            • Hereditary inclusion body myopathy type 2 [GNE]
          • Muscle Weakness
            • Hereditary inclusion body myopathy type 2 [GNE]
    • Pathological Conditions, Signs and Symptoms
      • Signs and Symptoms
        • Mobility Limitation
          • Hereditary inclusion body myopathy type 2 [GNE]