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-fucosylglycan synthesis
                • Peters-plus syndrome [B3GALTL]
          • Genetic disorders of glycan synthesis (new nomenclature)
            • Congenital disorders of glycosylation (CDGs)
              • Defects in protein O-glycosylation
                • Defects in O-fucosylglycan synthesis
                  • B3GALTL-CDG [B3GALTL]
        • Hereditary disorders by systems
          • Genetic disorders of glycan synthesis (by systems, signs and symptoms)
            • Diseases
              • Cardiovascular Diseases
                • Cardiovascular Abnormalities
                  • Heart Defects, Congenital
                    • B3GALTL-CDG [B3GALTL]
              • Eye Diseases
                • Corneal Diseases
                  • Corneal Opacity
                    • B3GALTL-CDG [B3GALTL]
                  • Corneal Dystrophies, Hereditary
                    • B3GALTL-CDG [B3GALTL]
                • Eye Abnormalities
                  • B3GALTL-CDG [B3GALTL]
                • Lens Diseases
                  • Cataract
                    • B3GALTL-CDG [B3GALTL]
                  • B3GALTL-CDG [B3GALTL]
                • Ocular Hypertension
                  • Glaucoma
                    • B3GALTL-CDG [B3GALTL]
                • Eye Diseases, Hereditary
                  • Corneal Dystrophies, Hereditary
                    • B3GALTL-CDG [B3GALTL]
                • Vision Disorders
                  • Vision, Low
                    • B3GALTL-CDG [B3GALTL]
              • Female Urogenital Diseases and Pregnancy Complications
                • Female Urogenital Diseases
                  • Urogenital Abnormalities
                    • B3GALTL-CDG [B3GALTL]
              • Male Urogenital Diseases
                • Urogenital Abnormalities
                  • B3GALTL-CDG [B3GALTL]
              • Musculoskeletal Diseases
                • Bone Diseases
                  • Bone Diseases, Developmental
                    • Dwarfism
                      • B3GALTL-CDG [B3GALTL]
                • Musculoskeletal Abnormalities
                  • Craniofacial Abnormalities
                    • Macrocephaly
                      • B3GALTL-CDG [B3GALTL]
                    • Maxillofacial Abnormalities
                      • B3GALTL-CDG [B3GALTL]
                      • Jaw Abnormalities
                        • Cleft Palate
                          • B3GALTL-CDG [B3GALTL]
                        • Micrognathism
                          • B3GALTL-CDG [B3GALTL]
                  • Limb Deformities, Congenital
                    • Brachydactyly
                      • B3GALTL-CDG [B3GALTL]
                    • Lower Extremity Deformities, Congenital
                      • B3GALTL-CDG [B3GALTL]
                    • Upper Extremity Deformities, Congenital
                      • Hand Deformities, Congenital
                        • B3GALTL-CDG [B3GALTL]
                      • B3GALTL-CDG [B3GALTL]
              • Nervous System Diseases
                • Central Nervous System Diseases
                  • Brain Diseases
                    • Hydrocephalus
                      • B3GALTL-CDG [B3GALTL]
                • Nervous System Malformations
                  • Malformations of Cortical Development
                    • Macrocephaly
                      • B3GALTL-CDG [B3GALTL]
                  • B3GALTL-CDG [B3GALTL]
                • Neurodegenerative Diseases
                  • Heredodegenerative Disorders, Nervous System
                    • B3GALTL-CDG [B3GALTL]
                • Neurologic Manifestations
                  • Neurobehavioral Manifestations
                    • Intellectual Disability
                      • B3GALTL-CDG [B3GALTL]
                  • Sensation Disorders
                    • Vision Disorders
                      • Vision, Low
                        • B3GALTL-CDG [B3GALTL]
              • Otorhinolaryngologic Diseases
                • Ear Diseases
                  • Hearing Disorders
                    • Hearing Loss
                      • B3GALTL-CDG [B3GALTL]
              • Pathological Conditions, Signs and Symptoms
                • Pathologic Processes
                  • Growth Disorders
                    • Fetal Growth Retardation
                      • B3GALTL-CDG [B3GALTL]
                    • B3GALTL-CDG [B3GALTL]
              • Stomatognathic Diseases
                • Stomatognathic System Abnormalities
                  • Mouth Abnormalities
                    • Cleft Lip
                      • B3GALTL-CDG [B3GALTL]
                      • Cleft Palate
                        • B3GALTL-CDG [B3GALTL]
                  • Maxillofacial Abnormalities
                    • Jaw Abnormalities
                      • Cleft Palate
                        • B3GALTL-CDG [B3GALTL]
                      • Micrognathism
                        • B3GALTL-CDG [B3GALTL]
            • Psychiatry and Psychology
              • Mental Disorders
                • Mental Disorders Diagnosed in Childhood
                  • Developmental Disabilities
                    • B3GALTL-CDG [B3GALTL]
                  • Feeding and Eating Disorders of Childhood
                    • B3GALTL-CDG [B3GALTL]
                  • Intellectual Disability
                    • B3GALTL-CDG [B3GALTL]