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)
            • Disorders of O-linked glycosylation
              • Defects in O-galactosyl glycan biosynthesis
                • Lysyl hydroxylase 3 deficiency (GDGDB) [PLOD3]
        • Hereditary disorders by systems
          • Genetic disorders of glycan synthesis (by systems, signs and symptoms)
            • Diseases
              • Cardiovascular Diseases
                • Vascular Diseases
                  • Aneurysm
                    • Aneurysm, Ruptured
                      • Lysyl hydroxylase 3 deficiency (GDGDB) [PLOD3]
                    • Intracranial Aneurysm
                      • Lysyl hydroxylase 3 deficiency (GDGDB) [PLOD3]
                    • Lysyl hydroxylase 3 deficiency (GDGDB) [PLOD3]
              • Eye Diseases
                • Lens Diseases
                  • Cataract
                    • Lysyl hydroxylase 3 deficiency (GDGDB) [PLOD3]
                • Refractive Errors
                  • Myopia
                    • Lysyl hydroxylase 3 deficiency (GDGDB) [PLOD3]
              • Hemic and Lymphatic Diseases
                • Hematologic Diseases
                  • Hemorrhagic Disorders
                    • Lysyl hydroxylase 3 deficiency (GDGDB) [PLOD3]
              • Musculoskeletal Diseases
                • Bone Diseases
                  • Bone Diseases, Metabolic
                    • Osteoporosis
                      • Lysyl hydroxylase 3 deficiency (GDGDB) [PLOD3]
                  • Spinal Diseases
                    • Spinal Curvatures
                      • Scoliosis
                        • Lysyl hydroxylase 3 deficiency (GDGDB) [PLOD3]
                • Joint Diseases
                  • Contracture
                    • Lysyl hydroxylase 3 deficiency (GDGDB) [PLOD3]
                • Musculoskeletal Abnormalities
                  • Craniofacial Abnormalities
                    • Maxillofacial Abnormalities
                      • Lysyl hydroxylase 3 deficiency (GDGDB) [PLOD3]
                    • Lysyl hydroxylase 3 deficiency (GDGDB) [PLOD3]
                  • Limb Deformities, Congenital
                    • Lower Extremity Deformities, Congenital
                      • Foot Deformities, Congenital
                        • Clubfoot
                          • Lysyl hydroxylase 3 deficiency (GDGDB) [PLOD3]
                  • Lysyl hydroxylase 3 deficiency (GDGDB) [PLOD3]
              • Nervous System Diseases
                • Nervous System Malformations
                  • Central Nervous System Cysts
                    • Lysyl hydroxylase 3 deficiency (GDGDB) [PLOD3]
              • Otorhinolaryngologic Diseases
                • Ear Diseases
                  • Hearing Disorders
                    • Hearing Loss
                      • Lysyl hydroxylase 3 deficiency (GDGDB) [PLOD3]
              • Pathological Conditions, Signs and Symptoms
                • Pathologic Processes
                  • Growth Disorders
                    • Fetal Growth Retardation
                      • Lysyl hydroxylase 3 deficiency (GDGDB) [PLOD3]
                    • Lysyl hydroxylase 3 deficiency (GDGDB) [PLOD3]
                • Pathological Conditions, Anatomical
                  • Rupture, Spontaneous
                    • Lysyl hydroxylase 3 deficiency (GDGDB) [PLOD3]
              • Skin and Connective Tissue Diseases
                • Connective Tissue Diseases
                  • Lysyl hydroxylase 3 deficiency (GDGDB) [PLOD3]
              • Wounds and Injuries
                • Fractures, Bone
                  • Fractures, Spontaneous
                    • Lysyl hydroxylase 3 deficiency (GDGDB) [PLOD3]
            • Psychiatry and Psychology
              • Mental Disorders
                • Mental Disorders Diagnosed in Childhood
                  • Developmental Disabilities
                    • Lysyl hydroxylase 3 deficiency (GDGDB) [PLOD3]