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 (new nomenclature)
            • Congenital disorders of glycosylation (CDGs)
              • Defects in glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation
                • Disorders of glycosylphosphatidylinositol anchor biosynthesis
                  • Multiple congenital anomalies-hypotonia-seizures syndrome 1 [PIGN]
        • Hereditary disorders by systems
          • Genetic disorders of glycan synthesis (by systems, signs and symptoms)
            • Diseases
              • Cardiovascular Diseases
                • Cardiovascular Abnormalities
                  • Heart Defects, Congenital
                    • Multiple congenital anomalies-hypotonia-seizures syndrome 1 [PIGN]
                • Heart Diseases
                  • Multiple congenital anomalies-hypotonia-seizures syndrome 1 [PIGN]
              • Digestive System Diseases
                • Gastrointestinal Diseases
                  • Multiple congenital anomalies-hypotonia-seizures syndrome 1 [PIGN]
                • Digestive System Abnormalities
                  • Anus, Imperforate
                    • Multiple congenital anomalies-hypotonia-seizures syndrome 1 [PIGN]
                  • Multiple congenital anomalies-hypotonia-seizures syndrome 1 [PIGN]
              • Eye Diseases
                • Ocular Motility Disorders
                  • Nystagmus, Pathologic
                    • Nystagmus, Congenital
                      • Multiple congenital anomalies-hypotonia-seizures syndrome 1 [PIGN]
              • Female Urogenital Diseases and Pregnancy Complications
                • Female Urogenital Diseases
                  • Urologic Diseases
                    • Kidney Diseases
                      • Nephrosis
                        • Multiple congenital anomalies-hypotonia-seizures syndrome 1 [PIGN]
                    • Multiple congenital anomalies-hypotonia-seizures syndrome 1 [PIGN]
                  • Urogenital Abnormalities
                    • Multiple congenital anomalies-hypotonia-seizures syndrome 1 [PIGN]
              • Male Urogenital Diseases
                • Urologic Diseases
                  • Kidney Diseases
                    • Nephrosis
                      • Multiple congenital anomalies-hypotonia-seizures syndrome 1 [PIGN]
                  • Multiple congenital anomalies-hypotonia-seizures syndrome 1 [PIGN]
                • Urogenital Abnormalities
                  • Multiple congenital anomalies-hypotonia-seizures syndrome 1 [PIGN]
              • Musculoskeletal Diseases
                • Musculoskeletal Abnormalities
                  • Craniofacial Abnormalities
                    • Maxillofacial Abnormalities
                      • Multiple congenital anomalies-hypotonia-seizures syndrome 1 [PIGN]
              • Nervous System Diseases
                • Demyelinating Diseases
                  • Hereditary Central Nervous System Demyelinating Diseases
                    • Multiple congenital anomalies-hypotonia-seizures syndrome 1 [PIGN]
                • Nervous System Malformations
                  • Multiple congenital anomalies-hypotonia-seizures syndrome 1 [PIGN]
                • Neurodegenerative Diseases
                  • Heredodegenerative Disorders, Nervous System
                    • Multiple congenital anomalies-hypotonia-seizures syndrome 1 [PIGN]
                • Neurologic Manifestations
                  • Neurobehavioral Manifestations
                    • Psychomotor Disorders
                      • Multiple congenital anomalies-hypotonia-seizures syndrome 1 [PIGN]
                  • Neuromuscular Manifestations
                    • Muscle Hypotonia
                      • Multiple congenital anomalies-hypotonia-seizures syndrome 1 [PIGN]
                  • Dyskinesias
                    • Tremor
                      • Multiple congenital anomalies-hypotonia-seizures syndrome 1 [PIGN]
                  • Seizures
                    • Multiple congenital anomalies-hypotonia-seizures syndrome 1 [PIGN]
                • Cranial Nerve Diseases
                  • Ocular Motility Disorders
                    • Nystagmus, Pathologic
                      • Nystagmus, Congenital
                        • Multiple congenital anomalies-hypotonia-seizures syndrome 1 [PIGN]
              • Pathological Conditions, Signs and Symptoms
                • Pathologic Processes
                  • Growth Disorders
                    • Fetal Growth Retardation
                      • Multiple congenital anomalies-hypotonia-seizures syndrome 1 [PIGN]
            • Psychiatry and Psychology
              • Mental Disorders
                • Mental Disorders Diagnosed in Childhood
                  • Developmental Disabilities
                    • Multiple congenital anomalies-hypotonia-seizures syndrome 1 [PIGN]