Legend:

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

• Congenital, Hereditary, and Neonatal Diseases and Abnormalities related to Glycans
  • Genetic Diseases, Inborn
    • Metabolism, Inborn Errors
      • Carbohydrate Metabolism, Inborn Errors (synthesis)
        • Pathogenesis
          • 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]
        • Hereditary disorders by systems
          • 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]