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 (new nomenclature)
            • Congenital disorders of glycosylation (CDGs)
              • Defects in multiple glycosylation and other pathways
                • Defects in dolichol biosynthesis
                  • SRD5A3-CDG [SRD5A3]
        • Hereditary disorders by systems
          • Genetic disorders of glycan synthesis (by systems, signs and symptoms)
            • Diseases
              • Cardiovascular Diseases
                • Cardiovascular Abnormalities
                  • Heart Defects, Congenital
                    • SRD5A3-CDG [SRD5A3]
                • Heart Diseases
                  • SRD5A3-CDG [SRD5A3]
              • Digestive System Diseases
                • Liver Diseases
                  • SRD5A3-CDG [SRD5A3]
              • Endocrine System Diseases
                • SRD5A3-CDG [SRD5A3]
              • Eye Diseases
                • Eye Abnormalities
                  • Coloboma
                    • SRD5A3-CDG [SRD5A3]
                  • SRD5A3-CDG [SRD5A3]
                • Lens Diseases
                  • Cataract
                    • SRD5A3-CDG [SRD5A3]
                • Eye Diseases, Hereditary
                  • Optic Atrophies, Hereditary
                    • SRD5A3-CDG [SRD5A3]
                  • SRD5A3-CDG [SRD5A3]
                • Ocular Motility Disorders
                  • Nystagmus, Pathologic
                    • Nystagmus, Congenital
                      • SRD5A3-CDG [SRD5A3]
                • Vision Disorders
                  • Blindness
                    • SRD5A3-CDG [SRD5A3]
                • Optic Nerve Diseases
                  • Optic Atrophy
                    • Optic Atrophies, Hereditary
                      • SRD5A3-CDG [SRD5A3]
                  • SRD5A3-CDG [SRD5A3]
              • Hemic and Lymphatic Diseases
                • Hematologic Diseases
                  • Anemia
                    • SRD5A3-CDG [SRD5A3]
                  • Blood Coagulation Disorders
                    • Coagulation Protein Disorders
                      • SRD5A3-CDG [SRD5A3]
                    • SRD5A3-CDG [SRD5A3]
              • Musculoskeletal Diseases
                • Bone Diseases
                  • Spinal Diseases
                    • Spinal Curvatures
                      • Kyphosis
                        • SRD5A3-CDG [SRD5A3]
                • Musculoskeletal Abnormalities
                  • Craniofacial Abnormalities
                    • Maxillofacial Abnormalities
                      • SRD5A3-CDG [SRD5A3]
              • Nervous System Diseases
                • Central Nervous System Diseases
                  • Brain Diseases
                    • Cerebellar Diseases
                      • SRD5A3-CDG [SRD5A3]
                  • Movement Disorders
                    • SRD5A3-CDG [SRD5A3]
                • Nervous System Malformations
                  • SRD5A3-CDG [SRD5A3]
                • Neurodegenerative Diseases
                  • Heredodegenerative Disorders, Nervous System
                    • SRD5A3-CDG [SRD5A3]
                • Neurologic Manifestations
                  • Neurobehavioral Manifestations
                    • Intellectual Disability
                      • SRD5A3-CDG [SRD5A3]
                  • Neuromuscular Manifestations
                    • Muscle Hypotonia
                      • SRD5A3-CDG [SRD5A3]
                  • Sensation Disorders
                    • Vision Disorders
                      • Blindness
                        • SRD5A3-CDG [SRD5A3]
                  • Dyskinesias
                    • Ataxia
                      • SRD5A3-CDG [SRD5A3]
                • Cranial Nerve Diseases
                  • Ocular Motility Disorders
                    • Nystagmus, Pathologic
                      • Nystagmus, Congenital
                        • SRD5A3-CDG [SRD5A3]
                  • Optic Nerve Diseases
                    • Optic Atrophy
                      • Optic Atrophies, Hereditary
                        • SRD5A3-CDG [SRD5A3]
                    • SRD5A3-CDG [SRD5A3]
              • Skin and Connective Tissue Diseases
                • Skin Diseases
                  • Skin Abnormalities
                    • Ichthyosis
                      • SRD5A3-CDG [SRD5A3]
                  • Hair Diseases
                    • Hypertrichosis
                      • SRD5A3-CDG [SRD5A3]
                  • Skin Diseases, Genetic
                    • SRD5A3-CDG [SRD5A3]
            • Psychiatry and Psychology
              • Mental Disorders
                • Mental Disorders Diagnosed in Childhood
                  • Developmental Disabilities
                    • SRD5A3-CDG [SRD5A3]
                  • Motor Skills Disorders
                    • SRD5A3-CDG [SRD5A3]
                  • Intellectual Disability
                    • SRD5A3-CDG [SRD5A3]