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 protein O-glycosylation
                • Defects in O-xylosylglycan synthesis
                  • Defective GAG Sulfation
                    • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
        • Hereditary disorders by systems
          • Genetic disorders of glycan synthesis (by systems, signs and symptoms)
            • Diseases
              • Cardiovascular Diseases
                • Heart Diseases
                  • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
              • Digestive System Diseases
                • Gastrointestinal Diseases
                  • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
              • Eye Diseases
                • Corneal Diseases
                  • Corneal Dystrophies, Hereditary
                    • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
                • Ocular Hypertension
                  • Glaucoma
                    • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
                • Retinal Diseases
                  • Retinal Detachment
                    • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
                • Eye Diseases, Hereditary
                  • Corneal Dystrophies, Hereditary
                    • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
                  • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
                • Refractive Errors
                  • Myopia
                    • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
              • Female Urogenital Diseases and Pregnancy Complications
                • Female Urogenital Diseases
                  • Urologic Diseases
                    • Kidney Diseases
                      • Nephrosis
                        • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
                  • Urogenital Abnormalities
                    • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
              • Male Urogenital Diseases
                • Urologic Diseases
                  • Kidney Diseases
                    • Nephrosis
                      • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
                • Urogenital Abnormalities
                  • Cryptorchidism
                    • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
                  • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
              • Musculoskeletal Diseases
                • Bone Diseases
                  • Bone Diseases, Developmental
                    • Dwarfism
                      • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
                  • Spinal Diseases
                    • Spinal Curvatures
                      • Kyphosis
                        • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
                      • Scoliosis
                        • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
                • Joint Diseases
                  • Contracture
                    • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
                  • Joint Instability
                    • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
                • Musculoskeletal Abnormalities
                  • Craniofacial Abnormalities
                    • Craniofacial Dysostosis
                      • Hypertelorism
                        • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
                    • Maxillofacial Abnormalities
                      • Jaw Abnormalities
                        • Cleft Palate
                          • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
                      • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
                    • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
                  • Limb Deformities, Congenital
                    • Lower Extremity Deformities, Congenital
                      • Foot Deformities, Congenital
                        • Clubfoot
                          • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
                        • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
                    • Upper Extremity Deformities, Congenital
                      • Hand Deformities, Congenital
                        • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
                  • Arthrogryposis
                    • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
                • Muscular Diseases
                  • Muscle Weakness
                    • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
              • Nervous System Diseases
                • Neurologic Manifestations
                  • Neuromuscular Manifestations
                    • Muscle Hypotonia
                      • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
                    • Muscle Weakness
                      • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
              • Pathological Conditions, Signs and Symptoms
                • Pathologic Processes
                  • Hemorrhage
                    • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
                • Pathological Conditions, Anatomical
                  • Hernia
                    • Hernia, Abdominal
                      • Hernia, Inguinal
                        • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
              • Respiratory Tract Diseases
                • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
              • Skin and Connective Tissue Diseases
                • Connective Tissue Diseases
                  • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
                • Skin Diseases
                  • Skin Abnormalities
                    • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
                  • Skin Diseases, Genetic
                    • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
              • Stomatognathic Diseases
                • Stomatognathic System Abnormalities
                  • Mouth Abnormalities
                    • Cleft Lip
                      • Cleft Palate
                        • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
                  • Maxillofacial Abnormalities
                    • Jaw Abnormalities
                      • Cleft Palate
                        • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
            • Psychiatry and Psychology
              • Mental Disorders
                • Mental Disorders Diagnosed in Childhood
                  • Motor Skills Disorders
                    • Ehlers-Danlos syndrome, musculocontractural type [CHST14]