Legend:

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

'Congenital muscular dystrophy type 1D' 'LARGE-CDG (cong. muscular dystrophy spectrum)'  (Integration tree)

Pathogenesis (traditional nomenclature)

• Genetic disorders of glycan synthesis (traditional nomenclature)
  • Disorders of O-linked glycosylation
    • Defects in O-mannose glycans
      • Congenital muscular dystrophy type 1D [LARGE]

Pathogenesis (new nomenclature)

• 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]

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

• 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]