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-Ic (GDGDB) [ALG6]
          • Genetic disorders of glycan synthesis (new nomenclature)
            • Congenital disorders of glycosylation (CDGs)
              • Defects in protein N-glycosylation
                • Defects in lipid-linked oligosaccharide biosynthesis
                  • ALG6-CDG (GDGDB) [ALG6]
        • Hereditary disorders by systems
          • Genetic disorders of glycan synthesis (by systems, signs and symptoms)
            • Diseases
              • Cardiovascular Diseases
                • Vascular Diseases
                  • Embolism and Thrombosis
                    • Thrombosis
                      • Venous Thrombosis
                        • ALG6-CDG (GDGDB) [ALG6]
              • Digestive System Diseases
                • Gastrointestinal Diseases
                  • Intestinal Diseases
                    • Protein-Losing Enteropathies
                      • ALG6-CDG (GDGDB) [ALG6]
              • Endocrine System Diseases
                • Gonadal Disorders
                  • Disorders of Sex Development
                    • Adrenogenital Syndrome
                      • Hyperandrogenism
                        • ALG6-CDG (GDGDB) [ALG6]
                    • ALG6-CDG (GDGDB) [ALG6]
                  • Puberty, Delayed
                    • ALG6-CDG (GDGDB) [ALG6]
                • ALG6-CDG (GDGDB) [ALG6]
              • Eye Diseases
                • Retinal Diseases
                  • Retinal Degeneration
                    • ALG6-CDG (GDGDB) [ALG6]
                • Refractive Errors
                  • Hyperopia
                    • ALG6-CDG (GDGDB) [ALG6]
                • Ocular Motility Disorders
                  • Strabismus
                    • ALG6-CDG (GDGDB) [ALG6]
              • Hemic and Lymphatic Diseases
                • Hematologic Diseases
                  • Blood Coagulation Disorders
                    • ALG6-CDG (GDGDB) [ALG6]
              • Musculoskeletal Diseases
                • Musculoskeletal Abnormalities
                  • Limb Deformities, Congenital
                    • Brachydactyly
                      • ALG6-CDG (GDGDB) [ALG6]
              • Nervous System Diseases
                • Central Nervous System Diseases
                  • Brain Diseases
                    • Intracranial Hypertension
                      • Pseudotumor Cerebri
                        • ALG6-CDG (GDGDB) [ALG6]
                    • Cerebellar Diseases
                      • ALG6-CDG (GDGDB) [ALG6]
                    • Epilepsy
                      • ALG6-CDG (GDGDB) [ALG6]
                • Neurologic Manifestations
                  • Neurobehavioral Manifestations
                    • Psychomotor Disorders
                      • ALG6-CDG (GDGDB) [ALG6]
                    • Communication Disorders
                      • Language Disorders
                        • Speech Disorders
                          • ALG6-CDG (GDGDB) [ALG6]
                    • Intellectual Disability
                      • ALG6-CDG (GDGDB) [ALG6]
                  • Neuromuscular Manifestations
                    • Muscle Hypotonia
                      • ALG6-CDG (GDGDB) [ALG6]
                  • Dyskinesias
                    • Ataxia
                      • ALG6-CDG (GDGDB) [ALG6]
                    • Myoclonus
                      • ALG6-CDG (GDGDB) [ALG6]
                  • Seizures
                    • ALG6-CDG (GDGDB) [ALG6]
                • Cranial Nerve Diseases
                  • Ocular Motility Disorders
                    • Strabismus
                      • ALG6-CDG (GDGDB) [ALG6]
              • Pathological Conditions, Signs and Symptoms
                • Signs and Symptoms
                  • Mobility Limitation
                    • ALG6-CDG (GDGDB) [ALG6]
                  • Virilism
                    • ALG6-CDG (GDGDB) [ALG6]
            • Psychiatry and Psychology
              • Mental Disorders
                • Mental Disorders Diagnosed in Childhood
                  • Developmental Disabilities
                    • ALG6-CDG (GDGDB) [ALG6]
                  • Motor Skills Disorders
                    • ALG6-CDG (GDGDB) [ALG6]
                  • Intellectual Disability
                    • ALG6-CDG (GDGDB) [ALG6]