Legend:

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

'Myasthenia, congenital, with tubular aggregates 1'  (Integration tree)

Pathogenesis (traditional nomenclature)

• Genetic disorders of glycan synthesis (traditional nomenclature)

Pathogenesis (new nomenclature)

• Genetic disorders of glycan synthesis (new nomenclature)
  • Congenital disorders of glycosylation (CDGs)
    • Defects in protein N-glycosylation
      • Defects in nucleotide-sugar biosynthesis
        • Myasthenia, congenital, with tubular aggregates 1 [GFPT1]

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
          • Myasthenia, congenital, with tubular aggregates 1 [GFPT1]
    • Nervous System Diseases
      • Neurologic Manifestations
        • Neuromuscular Manifestations
          • Muscular Atrophy
            • Myasthenia, congenital, with tubular aggregates 1 [GFPT1]
          • Muscle Weakness
            • Myasthenia, congenital, with tubular aggregates 1 [GFPT1]