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)
                • Type I CDGs
                  • CDG-Ie (GDGDB) [DPM1]
          • Genetic disorders of glycan synthesis (new nomenclature)
            • Congenital disorders of glycosylation (CDGs)
              • Defects in multiple glycosylation and other pathways
                • DPM1-CDG (GDGDB) [DPM1]
        • Hereditary disorders by systems
          • Genetic disorders of glycan synthesis (by systems, signs and symptoms)
            • Diseases
              • Eye Diseases
                • Retinal Diseases
                  • DPM1-CDG (GDGDB) [DPM1]
                • Ocular Motility Disorders
                  • Nystagmus, Pathologic
                    • Nystagmus, Congenital
                      • DPM1-CDG (GDGDB) [DPM1]
                  • Strabismus
                    • DPM1-CDG (GDGDB) [DPM1]
                • Vision Disorders
                  • Blindness
                    • DPM1-CDG (GDGDB) [DPM1]
              • Musculoskeletal Diseases
                • Joint Diseases
                  • Contracture
                    • DPM1-CDG (GDGDB) [DPM1]
                • Musculoskeletal Abnormalities
                  • Craniofacial Abnormalities
                    • Craniofacial Dysostosis
                      • Hypertelorism
                        • DPM1-CDG (GDGDB) [DPM1]
                    • Maxillofacial Abnormalities
                      • DPM1-CDG (GDGDB) [DPM1]
                    • Microcephaly
                      • DPM1-CDG (GDGDB) [DPM1]
              • Nervous System Diseases
                • Nervous System Malformations
                  • Malformations of Cortical Development
                    • Microcephaly
                      • DPM1-CDG (GDGDB) [DPM1]
                • Neurologic Manifestations
                  • Neurobehavioral Manifestations
                    • Communication Disorders
                      • Language Disorders
                        • Speech Disorders
                          • DPM1-CDG (GDGDB) [DPM1]
                  • Neuromuscular Manifestations
                    • Muscle Hypotonia
                      • DPM1-CDG (GDGDB) [DPM1]
                  • Sensation Disorders
                    • Vision Disorders
                      • Blindness
                        • DPM1-CDG (GDGDB) [DPM1]
                  • Dyskinesias
                    • Ataxia
                      • DPM1-CDG (GDGDB) [DPM1]
                  • Seizures
                    • DPM1-CDG (GDGDB) [DPM1]
                • Neuromuscular Diseases
                  • Peripheral Nervous System Diseases
                    • Polyneuropathy
                      • DPM1-CDG (GDGDB) [DPM1]
                • Cranial Nerve Diseases
                  • Ocular Motility Disorders
                    • Nystagmus, Pathologic
                      • Nystagmus, Congenital
                        • DPM1-CDG (GDGDB) [DPM1]
                    • Strabismus
                      • DPM1-CDG (GDGDB) [DPM1]
              • Otorhinolaryngologic Diseases
                • Pharyngeal Diseases
                  • Deglutition Disorders
                    • DPM1-CDG (GDGDB) [DPM1]
            • Psychiatry and Psychology
              • Mental Disorders
                • Mental Disorders Diagnosed in Childhood
                  • Developmental Disabilities
                    • DPM1-CDG (GDGDB) [DPM1]