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)
            • Defects in N-glycan biosynthesis
              • Disorders of N-linked glycosylation - Congenital disorders of glycosylation (CDGs)
                • Other CDGs
                  • V-ATPase a2 subunit defect [ATP6V0A2]
          • 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]
        • Hereditary disorders by systems
          • 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]