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 N-glycosylation
                • Defects in N-glycosylation
                  • TMEM165-CDG [TMEM165]
        • Hereditary disorders by systems
          • Genetic disorders of glycan synthesis (by systems, signs and symptoms)
            • Diseases
              • Digestive System Diseases
                • Liver Diseases
                  • Hepatomegaly
                    • TMEM165-CDG [TMEM165]
              • Endocrine System Diseases
                • TMEM165-CDG [TMEM165]
              • Eye Diseases
                • Eye Abnormalities
                  • TMEM165-CDG [TMEM165]
                • Eye Diseases, Hereditary
                  • TMEM165-CDG [TMEM165]
              • Hemic and Lymphatic Diseases
                • Lymphatic Diseases
                  • Splenic Diseases
                    • TMEM165-CDG [TMEM165]
              • Musculoskeletal Diseases
                • Bone Diseases
                  • Bone Diseases, Developmental
                    • Dwarfism
                      • TMEM165-CDG [TMEM165]
                    • Osteochondrodysplasias
                      • Osteogenesis Imperfecta
                        • TMEM165-CDG [TMEM165]
                    • TMEM165-CDG [TMEM165]
                  • Bone Diseases, Metabolic
                    • Osteoporosis
                      • TMEM165-CDG [TMEM165]
                  • Spinal Diseases
                    • Spinal Curvatures
                      • Kyphosis
                        • TMEM165-CDG [TMEM165]
                      • Scoliosis
                        • TMEM165-CDG [TMEM165]
                      • TMEM165-CDG [TMEM165]
                    • Spondylosis
                      • TMEM165-CDG [TMEM165]
                • Joint Diseases
                  • Joint Instability
                    • TMEM165-CDG [TMEM165]
                • Musculoskeletal Abnormalities
                  • Craniofacial Abnormalities
                    • Maxillofacial Abnormalities
                      • TMEM165-CDG [TMEM165]
                    • Microcephaly
                      • TMEM165-CDG [TMEM165]
                  • TMEM165-CDG [TMEM165]
                • Muscular Diseases
                  • Muscle Weakness
                    • TMEM165-CDG [TMEM165]
              • Nervous System Diseases
                • Central Nervous System Diseases
                  • Brain Diseases
                    • Epilepsy
                      • TMEM165-CDG [TMEM165]
                • Demyelinating Diseases
                  • Hereditary Central Nervous System Demyelinating Diseases
                    • TMEM165-CDG [TMEM165]
                • Nervous System Malformations
                  • Malformations of Cortical Development
                    • Microcephaly
                      • TMEM165-CDG [TMEM165]
                • Neurodegenerative Diseases
                  • Heredodegenerative Disorders, Nervous System
                    • TMEM165-CDG [TMEM165]
                • Neurologic Manifestations
                  • Neurobehavioral Manifestations
                    • Psychomotor Disorders
                      • TMEM165-CDG [TMEM165]
                  • Neuromuscular Manifestations
                    • Muscle Hypotonia
                      • TMEM165-CDG [TMEM165]
                    • Muscle Weakness
                      • TMEM165-CDG [TMEM165]
              • Pathological Conditions, Signs and Symptoms
                • Pathologic Processes
                  • Growth Disorders
                    • TMEM165-CDG [TMEM165]
                • Signs and Symptoms
                  • Body Temperature Changes
                    • Fever
                      • TMEM165-CDG [TMEM165]
              • Respiratory Tract Diseases
                • Lung Diseases
                  • TMEM165-CDG [TMEM165]
              • Skin and Connective Tissue Diseases
                • Connective Tissue Diseases
                  • Collagen Diseases
                    • Osteogenesis Imperfecta
                      • TMEM165-CDG [TMEM165]