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 (traditional nomenclature)
            • Disorders of O-linked glycosylation
              • Defects in O-mannose glycans
                • Congenital muscular dystrophy type 1D [LARGE]
          • Genetic disorders of glycan synthesis (new nomenclature)
            • Congenital disorders of glycosylation (CDGs)
              • Defects in protein O-glycosylation
                • Defects in O-mannosylglycan synthesis
                  • LARGE-CDG (cong. muscular dystrophy spectrum) [LARGE]
        • Hereditary disorders by systems
          • Genetic disorders of glycan synthesis (by systems, signs and symptoms)
            • Diseases
              • Musculoskeletal Diseases
                • Joint Diseases
                  • Contracture
                    • LARGE-CDG (cong. muscular dystrophy spectrum) [LARGE]
                • Muscular Diseases
                  • Muscle Weakness
                    • LARGE-CDG (cong. muscular dystrophy spectrum) [LARGE]
                  • Muscular Disorders, Atrophic
                    • Muscular Dystrophies
                      • LARGE-CDG (cong. muscular dystrophy spectrum) [LARGE]
              • Nervous System Diseases
                • Central Nervous System Diseases
                  • Brain Diseases
                    • Cerebellar Diseases
                      • LARGE-CDG (cong. muscular dystrophy spectrum) [LARGE]
                • Nervous System Malformations
                  • Malformations of Cortical Development
                    • Neuronal Migration Disorders
                      • LARGE-CDG (cong. muscular dystrophy spectrum) [LARGE]
                    • LARGE-CDG (cong. muscular dystrophy spectrum) [LARGE]
                  • Central Nervous System Cysts
                    • LARGE-CDG (cong. muscular dystrophy spectrum) [LARGE]
                  • LARGE-CDG (cong. muscular dystrophy spectrum) [LARGE]
                • Neurologic Manifestations
                  • Neurobehavioral Manifestations
                    • Intellectual Disability
                      • LARGE-CDG (cong. muscular dystrophy spectrum) [LARGE]
                  • Neuromuscular Manifestations
                    • Muscle Hypotonia
                      • LARGE-CDG (cong. muscular dystrophy spectrum) [LARGE]
                    • Muscular Atrophy
                      • LARGE-CDG (cong. muscular dystrophy spectrum) [LARGE]
                    • Muscle Weakness
                      • LARGE-CDG (cong. muscular dystrophy spectrum) [LARGE]
                • Neuromuscular Diseases
                  • Muscular Diseases
                    • Muscular Disorders, Atrophic
                      • Muscular Dystrophies
                        • LARGE-CDG (cong. muscular dystrophy spectrum) [LARGE]
              • Pathological Conditions, Signs and Symptoms
                • Signs and Symptoms
                  • Mobility Limitation
                    • LARGE-CDG (cong. muscular dystrophy spectrum) [LARGE]
              • Stomatognathic Diseases
                • Mouth Diseases
                  • Tongue Diseases
                    • Macroglossia
                      • LARGE-CDG (cong. muscular dystrophy spectrum) [LARGE]
            • Psychiatry and Psychology
              • Mental Disorders
                • Mental Disorders Diagnosed in Childhood
                  • Developmental Disabilities
                    • LARGE-CDG (cong. muscular dystrophy spectrum) [LARGE]
                  • Motor Skills Disorders
                    • LARGE-CDG (cong. muscular dystrophy spectrum) [LARGE]
                  • Intellectual Disability
                    • LARGE-CDG (cong. muscular dystrophy spectrum) [LARGE]