Legend:

• Concept Types
  • target (single disease)
  • classification term
  • pathway-based classification term
  • clinical findings
  • multiple types disease
  • single disease
  • disease type

'Multiple congenital anomalies-hypotonia-seizures syndrome 1'  (Integration tree)

Pathogenesis (traditional nomenclature)

• Genetic disorders of glycan synthesis (traditional nomenclature)

Pathogenesis (new nomenclature)

• 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]

Genetic disorders of glycan synthesis (by systems, signs and symptoms)

• 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]