Legend:

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

'Muscular dystrophy, congenital, type 1C'  (Integration tree)

Pathogenesis (traditional nomenclature)

• Genetic disorders of glycan synthesis (traditional nomenclature)
  • Disorders of O-linked glycosylation
    • Defects in O-mannose glycans
      • Muscular dystrophy, congenital, type 1C (GDGDB) [FKRP]

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
        • FKRP-CDG (cong. muscular dystrophy spectrum)
          • Muscular dystrophy, congenital, type 1C (GDGDB) [FKRP]

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
          • Muscular dystrophy, congenital, type 1C (GDGDB) [FKRP]
      • Musculoskeletal Abnormalities
        • Craniofacial Abnormalities
          • Microcephaly
            • Muscular dystrophy, congenital, type 1C (GDGDB) [FKRP]
      • Muscular Diseases
        • Muscle Weakness
          • Muscular dystrophy, congenital, type 1C (GDGDB) [FKRP]
        • Muscular Disorders, Atrophic
          • Muscular Dystrophies
            • Muscular dystrophy, congenital, type 1C (GDGDB) [FKRP]
    • Nervous System Diseases
      • Central Nervous System Diseases
        • Brain Diseases
          • Cerebellar Diseases
            • Muscular dystrophy, congenital, type 1C (GDGDB) [FKRP]
      • Nervous System Malformations
        • Malformations of Cortical Development
          • Microcephaly
            • Muscular dystrophy, congenital, type 1C (GDGDB) [FKRP]
        • Central Nervous System Cysts
          • Muscular dystrophy, congenital, type 1C (GDGDB) [FKRP]
        • Muscular dystrophy, congenital, type 1C (GDGDB) [FKRP]
      • Neurologic Manifestations
        • Neurobehavioral Manifestations
          • Intellectual Disability
            • Muscular dystrophy, congenital, type 1C (GDGDB) [FKRP]
        • Neuromuscular Manifestations
          • Muscle Hypotonia
            • Muscular dystrophy, congenital, type 1C (GDGDB) [FKRP]
          • Muscular Atrophy
            • Muscular dystrophy, congenital, type 1C (GDGDB) [FKRP]
          • Muscle Weakness
            • Muscular dystrophy, congenital, type 1C (GDGDB) [FKRP]
      • Neuromuscular Diseases
        • Muscular Diseases
          • Muscular Disorders, Atrophic
            • Muscular Dystrophies
              • Muscular dystrophy, congenital, type 1C (GDGDB) [FKRP]
    • Pathological Conditions, Signs and Symptoms
      • Signs and Symptoms
        • Mobility Limitation
          • Muscular dystrophy, congenital, type 1C (GDGDB) [FKRP]
    • Respiratory Tract Diseases
      • Respiration Disorders
        • Respiratory Insufficiency
          • Muscular dystrophy, congenital, type 1C (GDGDB) [FKRP]
    • Stomatognathic Diseases
      • Mouth Diseases
        • Tongue Diseases
          • Macroglossia
            • Muscular dystrophy, congenital, type 1C (GDGDB) [FKRP]
  • Psychiatry and Psychology
    • Mental Disorders
      • Mental Disorders Diagnosed in Childhood
        • Feeding and Eating Disorders of Childhood
          • Muscular dystrophy, congenital, type 1C (GDGDB) [FKRP]
        • Motor Skills Disorders
          • Muscular dystrophy, congenital, type 1C (GDGDB) [FKRP]
        • Intellectual Disability
          • Muscular dystrophy, congenital, type 1C (GDGDB) [FKRP]