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-Ig (GDGDB) [ALG12]
          • Genetic disorders of glycan synthesis (new nomenclature)
            • Congenital disorders of glycosylation (CDGs)
              • Defects in protein N-glycosylation
                • Defects in lipid-linked oligosaccharide biosynthesis
                  • ALG12-CDG (GDGDB) [ALG12]
        • Hereditary disorders by systems
          • Genetic disorders of glycan synthesis (by systems, signs and symptoms)
            • Diseases
              • Cardiovascular Diseases
                • Heart Diseases
                  • ALG12-CDG (GDGDB) [ALG12]
              • Endocrine System Diseases
                • Gonadal Disorders
                  • Hypogonadism
                    • ALG12-CDG (GDGDB) [ALG12]
              • Eye Diseases
                • Vision Disorders
                  • Blindness
                    • ALG12-CDG (GDGDB) [ALG12]
              • Hemic and Lymphatic Diseases
                • Hematologic Diseases
                  • Blood Coagulation Disorders
                    • ALG12-CDG (GDGDB) [ALG12]
              • Male Urogenital Diseases
                • Urogenital Abnormalities
                  • Hypospadias
                    • ALG12-CDG (GDGDB) [ALG12]
              • Musculoskeletal Diseases
                • Bone Diseases
                  • Bone Diseases, Developmental
                    • ALG12-CDG (GDGDB) [ALG12]
                • Musculoskeletal Abnormalities
                  • Craniofacial Abnormalities
                    • Maxillofacial Abnormalities
                      • ALG12-CDG (GDGDB) [ALG12]
                    • Microcephaly
                      • ALG12-CDG (GDGDB) [ALG12]
              • Nervous System Diseases
                • Nervous System Malformations
                  • Malformations of Cortical Development
                    • Microcephaly
                      • ALG12-CDG (GDGDB) [ALG12]
                • Neurologic Manifestations
                  • Neurobehavioral Manifestations
                    • Psychomotor Disorders
                      • ALG12-CDG (GDGDB) [ALG12]
                    • Intellectual Disability
                      • ALG12-CDG (GDGDB) [ALG12]
                  • Neuromuscular Manifestations
                    • Muscle Hypotonia
                      • ALG12-CDG (GDGDB) [ALG12]
                  • Sensation Disorders
                    • Vision Disorders
                      • Blindness
                        • ALG12-CDG (GDGDB) [ALG12]
                  • Seizures
                    • ALG12-CDG (GDGDB) [ALG12]
              • Otorhinolaryngologic Diseases
                • Ear Diseases
                  • Hearing Disorders
                    • Hearing Loss
                      • ALG12-CDG (GDGDB) [ALG12]
              • Pathological Conditions, Signs and Symptoms
                • Pathologic Processes
                  • Growth Disorders
                    • ALG12-CDG (GDGDB) [ALG12]
                • Signs and Symptoms
                  • Edema
                    • ALG12-CDG (GDGDB) [ALG12]
                  • Failure to Thrive
                    • ALG12-CDG (GDGDB) [ALG12]
              • Respiratory Tract Diseases
                • Respiratory Tract Infections
                  • ALG12-CDG (GDGDB) [ALG12]
              • Immune System Diseases
                • Immunologic Deficiency Syndromes
                  • Dysgammaglobulinemia
                    • ALG12-CDG (GDGDB) [ALG12]
                  • ALG12-CDG (GDGDB) [ALG12]
            • Psychiatry and Psychology
              • Mental Disorders
                • Mental Disorders Diagnosed in Childhood
                  • Developmental Disabilities
                    • ALG12-CDG (GDGDB) [ALG12]
                  • Feeding and Eating Disorders of Childhood
                    • ALG12-CDG (GDGDB) [ALG12]
                  • Motor Skills Disorders
                    • ALG12-CDG (GDGDB) [ALG12]
                  • Intellectual Disability
                    • ALG12-CDG (GDGDB) [ALG12]