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-Im [TMEM15]
          • Genetic disorders of glycan synthesis (new nomenclature)
            • Congenital disorders of glycosylation (CDGs)
              • Defects in multiple glycosylation and other pathways
                • Defects in dolichol biosynthesis
                  • DOLK-CDG [TMEM15]
        • Hereditary disorders by systems
          • Genetic disorders of glycan synthesis (by systems, signs and symptoms)
            • Diseases
              • Cardiovascular Diseases
                • Heart Diseases
                  • Heart Failure
                    • DOLK-CDG [TMEM15]
                  • Cardiomyopathies
                    • DOLK-CDG [TMEM15]
                  • Arrhythmias, Cardiac
                    • DOLK-CDG [TMEM15]
              • Eye Diseases
                • Ocular Motility Disorders
                  • Nystagmus, Pathologic
                    • Nystagmus, Congenital
                      • DOLK-CDG [TMEM15]
              • Musculoskeletal Diseases
                • Bone Diseases
                  • Bone Diseases, Developmental
                    • Dwarfism
                      • DOLK-CDG [TMEM15]
                • Musculoskeletal Abnormalities
                  • Craniofacial Abnormalities
                    • Microcephaly
                      • DOLK-CDG [TMEM15]
              • Nervous System Diseases
                • Nervous System Malformations
                  • Malformations of Cortical Development
                    • Microcephaly
                      • DOLK-CDG [TMEM15]
                • Neurologic Manifestations
                  • Neuromuscular Manifestations
                    • Muscle Hypotonia
                      • DOLK-CDG [TMEM15]
                  • Paralysis
                    • Quadriplegia
                      • DOLK-CDG [TMEM15]
                  • Seizures
                    • DOLK-CDG [TMEM15]
                • Cranial Nerve Diseases
                  • Ocular Motility Disorders
                    • Nystagmus, Pathologic
                      • Nystagmus, Congenital
                        • DOLK-CDG [TMEM15]
              • Pathological Conditions, Signs and Symptoms
                • Pathologic Processes
                  • Growth Disorders
                    • DOLK-CDG [TMEM15]
                • Signs and Symptoms
                  • Failure to Thrive
                    • DOLK-CDG [TMEM15]
              • Respiratory Tract Diseases
                • Respiratory Tract Infections
                  • DOLK-CDG [TMEM15]
              • Skin and Connective Tissue Diseases
                • Skin Diseases
                  • Skin Abnormalities
                    • Ichthyosis
                      • DOLK-CDG [TMEM15]
                  • Hair Diseases
                    • Hypotrichosis
                      • Alopecia
                        • DOLK-CDG [TMEM15]
              • Nutritional and Metabolic Diseases
                • Metabolic Diseases
                  • Glucose Metabolism Disorders
                    • Hypoglycemia
                      • DOLK-CDG [TMEM15]
            • Psychiatry and Psychology
              • Mental Disorders
                • Mental Disorders Diagnosed in Childhood
                  • Developmental Disabilities
                    • DOLK-CDG [TMEM15]