Legend:

• Concept Types

• 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]
                • Spondylocostal dysostosis 3, autosomal recessive [LFNG]
          • 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]
                  • LFNG-CDG [LFNG]