Legend:

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

'V-ATPase a2 subunit defect' 'ATP6VOA2-CDG'  (Integration tree)

Pathogenesis (traditional nomenclature)

• Genetic disorders of glycan synthesis (traditional nomenclature)
  • Defects in N-glycan biosynthesis
    • Disorders of N-linked glycosylation - Congenital disorders of glycosylation (CDGs)
      • Other CDGs
        • V-ATPase a2 subunit defect [ATP6V0A2]

Pathogenesis (new nomenclature)

• Genetic disorders of glycan synthesis (new nomenclature)
  • Congenital disorders of glycosylation (CDGs)
    • Defects in multiple glycosylation and other pathways
      • Defects in vesicular transport
        • Defect in V-ATPase a2 subunit
          • ATP6VOA2-CDG [ATP6V0A2]

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

• Genetic disorders of glycan synthesis (by systems, signs and symptoms)
  • Diseases
    • Eye Diseases
      • Refractive Errors
        • Myopia
          • ATP6VOA2-CDG [ATP6V0A2]
    • Musculoskeletal Diseases
      • Bone Diseases
        • Bone Diseases, Metabolic
          • Osteoporosis
            • ATP6VOA2-CDG [ATP6V0A2]
      • Joint Diseases
        • Joint Instability
          • ATP6VOA2-CDG [ATP6V0A2]
        • ATP6VOA2-CDG [ATP6V0A2]
      • Musculoskeletal Abnormalities
        • Craniofacial Abnormalities
          • Maxillofacial Abnormalities
            • ATP6VOA2-CDG [ATP6V0A2]
          • Microcephaly
            • ATP6VOA2-CDG [ATP6V0A2]
        • Hip Dislocation, Congenital
          • ATP6VOA2-CDG [ATP6V0A2]
        • ATP6VOA2-CDG [ATP6V0A2]
    • Nervous System Diseases
      • Central Nervous System Diseases
        • Brain Diseases
          • Epilepsy
            • ATP6VOA2-CDG [ATP6V0A2]
      • Nervous System Malformations
        • Malformations of Cortical Development
          • Microcephaly
            • ATP6VOA2-CDG [ATP6V0A2]
          • ATP6VOA2-CDG [ATP6V0A2]
        • ATP6VOA2-CDG [ATP6V0A2]
      • Neurodegenerative Diseases
        • Heredodegenerative Disorders, Nervous System
          • ATP6VOA2-CDG [ATP6V0A2]
      • Neurologic Manifestations
        • Neurobehavioral Manifestations
          • Intellectual Disability
            • ATP6VOA2-CDG [ATP6V0A2]
        • Neuromuscular Manifestations
          • Muscle Hypotonia
            • ATP6VOA2-CDG [ATP6V0A2]
        • Seizures
          • ATP6VOA2-CDG [ATP6V0A2]
    • Pathological Conditions, Signs and Symptoms
      • Pathologic Processes
        • Growth Disorders
          • ATP6VOA2-CDG [ATP6V0A2]
      • Pathological Conditions, Anatomical
        • Hernia
          • Hernia, Abdominal
            • Hernia, Inguinal
              • ATP6VOA2-CDG [ATP6V0A2]
      • Signs and Symptoms
        • Failure to Thrive
          • ATP6VOA2-CDG [ATP6V0A2]
    • Skin and Connective Tissue Diseases
      • Connective Tissue Diseases
        • Cutis Laxa
          • ATP6VOA2-CDG [ATP6V0A2]
  • Psychiatry and Psychology
    • Mental Disorders
      • Mental Disorders Diagnosed in Childhood
        • Developmental Disabilities
          • ATP6VOA2-CDG [ATP6V0A2]
        • Feeding and Eating Disorders of Childhood
          • ATP6VOA2-CDG [ATP6V0A2]
        • Motor Skills Disorders
          • ATP6VOA2-CDG [ATP6V0A2]
        • Intellectual Disability
          • ATP6VOA2-CDG [ATP6V0A2]