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-xylose glycosaminoglycans
                • Ehlers-Danlos syndrome, progeroid form [B4GALT7]
          • Genetic disorders of glycan synthesis (new nomenclature)
            • Congenital disorders of glycosylation (CDGs)
              • Defects in protein O-glycosylation
                • Defects in O-xylosylglycan synthesis
                  • Linkage glycan defects
                    • B4GALT7-CDG [B4GALT7]
        • Hereditary disorders by systems
          • Genetic disorders of glycan synthesis (by systems, signs and symptoms)
            • Diseases
              • Musculoskeletal Diseases
                • Bone Diseases
                  • Bone Diseases, Developmental
                    • Dwarfism
                      • B4GALT7-CDG [B4GALT7]
                  • Bone Diseases, Metabolic
                    • Osteoporosis
                      • B4GALT7-CDG [B4GALT7]
                • Joint Diseases
                  • Joint Instability
                    • B4GALT7-CDG [B4GALT7]
                • Musculoskeletal Abnormalities
                  • Craniofacial Abnormalities
                    • Maxillofacial Abnormalities
                      • B4GALT7-CDG [B4GALT7]
                    • B4GALT7-CDG [B4GALT7]
              • Nervous System Diseases
                • Neurologic Manifestations
                  • Neurobehavioral Manifestations
                    • Intellectual Disability
                      • B4GALT7-CDG [B4GALT7]
                  • Neuromuscular Manifestations
                    • Muscle Hypotonia
                      • B4GALT7-CDG [B4GALT7]
              • Skin and Connective Tissue Diseases
                • Connective Tissue Diseases
                  • Cutis Laxa
                    • B4GALT7-CDG [B4GALT7]
                  • B4GALT7-CDG [B4GALT7]
              • Stomatognathic Diseases
                • Stomatognathic System Abnormalities
                  • Tooth Abnormalities
                    • B4GALT7-CDG [B4GALT7]
            • Psychiatry and Psychology
              • Mental Disorders
                • Mental Disorders Diagnosed in Childhood
                  • Developmental Disabilities
                    • B4GALT7-CDG [B4GALT7]
                  • Intellectual Disability
                    • B4GALT7-CDG [B4GALT7]