Legend:

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

'CDG-Ij' 'DPAGT1-CDG'  (Integration tree)

Pathogenesis (traditional nomenclature)

• Genetic disorders of glycan synthesis (traditional nomenclature)
  • Defects in N-glycan biosynthesis
    • Disorders of N-linked glycosylation - Congenital disorders of glycosylation (CDGs)
      • Type I CDGs
        • CDG-Ij (GDGDB) [DPAGT1]

Pathogenesis (new nomenclature)

• Genetic disorders of glycan synthesis (new nomenclature)
  • Congenital disorders of glycosylation (CDGs)
    • Defects in protein N-glycosylation
      • Defects in lipid-linked oligosaccharide biosynthesis
        • DPAGT1-CDG (GDGDB) [DPAGT1]

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

• Genetic disorders of glycan synthesis (by systems, signs and symptoms)
  • Diseases
    • Eye Diseases
      • Lens Diseases
        • Cataract
          • DPAGT1-CDG (GDGDB) [DPAGT1]
      • Ocular Motility Disorders
        • Strabismus
          • Exotropia
            • DPAGT1-CDG (GDGDB) [DPAGT1]
    • Hemic and Lymphatic Diseases
      • Hematologic Diseases
        • Anemia
          • DPAGT1-CDG (GDGDB) [DPAGT1]
        • Blood Protein Disorders
          • Hypoproteinemia
            • DPAGT1-CDG (GDGDB) [DPAGT1]
    • Male Urogenital Diseases
      • Urogenital Abnormalities
        • Cryptorchidism
          • DPAGT1-CDG (GDGDB) [DPAGT1]
    • Musculoskeletal Diseases
      • Joint Diseases
        • Contracture
          • DPAGT1-CDG (GDGDB) [DPAGT1]
      • Musculoskeletal Abnormalities
        • Craniofacial Abnormalities
          • Maxillofacial Abnormalities
            • DPAGT1-CDG (GDGDB) [DPAGT1]
            • Jaw Abnormalities
              • Micrognathism
                • DPAGT1-CDG (GDGDB) [DPAGT1]
          • Microcephaly
            • DPAGT1-CDG (GDGDB) [DPAGT1]
    • Nervous System Diseases
      • Central Nervous System Diseases
        • Brain Diseases
          • Epilepsy
            • Epilepsy, Generalized
              • Spasms, Infantile
                • DPAGT1-CDG (GDGDB) [DPAGT1]
      • Nervous System Malformations
        • Malformations of Cortical Development
          • Microcephaly
            • DPAGT1-CDG (GDGDB) [DPAGT1]
      • Neurologic Manifestations
        • Neurobehavioral Manifestations
          • Communication Disorders
            • Language Disorders
              • Speech Disorders
                • DPAGT1-CDG (GDGDB) [DPAGT1]
          • Intellectual Disability
            • DPAGT1-CDG (GDGDB) [DPAGT1]
        • Neuromuscular Manifestations
          • Muscle Hypertonia
            • DPAGT1-CDG (GDGDB) [DPAGT1]
          • Muscle Hypotonia
            • DPAGT1-CDG (GDGDB) [DPAGT1]
        • Dyskinesias
          • Tremor
            • DPAGT1-CDG (GDGDB) [DPAGT1]
        • Seizures
          • DPAGT1-CDG (GDGDB) [DPAGT1]
      • Cranial Nerve Diseases
        • Ocular Motility Disorders
          • Strabismus
            • Exotropia
              • DPAGT1-CDG (GDGDB) [DPAGT1]
    • Pathological Conditions, Signs and Symptoms
      • Pathologic Processes
        • Hyperbilirubinemia
          • Jaundice
            • DPAGT1-CDG (GDGDB) [DPAGT1]
    • Respiratory Tract Diseases
      • Respiration Disorders
        • Respiratory Insufficiency
          • DPAGT1-CDG (GDGDB) [DPAGT1]
        • DPAGT1-CDG (GDGDB) [DPAGT1]
    • Stomatognathic Diseases
      • Stomatognathic System Abnormalities
        • Maxillofacial Abnormalities
          • Jaw Abnormalities
            • Micrognathism
              • DPAGT1-CDG (GDGDB) [DPAGT1]
  • Psychiatry and Psychology
    • Mental Disorders
      • Mental Disorders Diagnosed in Childhood
        • Developmental Disabilities
          • DPAGT1-CDG (GDGDB) [DPAGT1]
        • Feeding and Eating Disorders of Childhood
          • DPAGT1-CDG (GDGDB) [DPAGT1]
        • Intellectual Disability
          • DPAGT1-CDG (GDGDB) [DPAGT1]