Legend:

• Concept Types
  • target (clinical findings)
  • 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)
        • Hereditary disorders by systems
          • Genetic disorders of glycan synthesis (by systems, signs and symptoms)
            • Diseases
              • Digestive System Diseases
                • Digestive System Abnormalities
                  • Anus, Imperforate
                    • Hyperphosphatasia with mental retardation syndrome 1 [PIGV]
                    • Multiple congenital anomalies-hypotonia-seizures syndrome 1 [PIGN]
                  • COG6-CDG [COG6]
                  • Hyperphosphatasia with mental retardation syndrome 1 [PIGV]
                  • Multiple congenital anomalies-hypotonia-seizures syndrome 1 [PIGN]