Legend:

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

'CDG-IId' 'B4GALT1-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 II CDGs
        • CDG-IId (GDGDB) [B4GALT1]

Pathogenesis (new nomenclature)

• Genetic disorders of glycan synthesis (new nomenclature)
  • Congenital disorders of glycosylation (CDGs)
    • Defects in multiple glycosylation and other pathways
      • B4GALT1-CDG (GDGDB) [B4GALT1]

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

• Genetic disorders of glycan synthesis (by systems, signs and symptoms)
  • Diseases
    • Digestive System Diseases
      • Liver Diseases
        • Hepatomegaly
          • B4GALT1-CDG (GDGDB) [B4GALT1]
    • Hemic and Lymphatic Diseases
      • Hematologic Diseases
        • Blood Coagulation Disorders
          • B4GALT1-CDG (GDGDB) [B4GALT1]
    • Musculoskeletal Diseases
      • Musculoskeletal Abnormalities
        • Craniofacial Abnormalities
          • Macrocephaly
            • B4GALT1-CDG (GDGDB) [B4GALT1]
      • Muscular Diseases
        • Muscle Weakness
          • B4GALT1-CDG (GDGDB) [B4GALT1]
    • Nervous System Diseases
      • Central Nervous System Diseases
        • Brain Diseases
          • Cerebellar Diseases
            • B4GALT1-CDG (GDGDB) [B4GALT1]
          • Hydrocephalus
            • B4GALT1-CDG (GDGDB) [B4GALT1]
      • Nervous System Malformations
        • Malformations of Cortical Development
          • Macrocephaly
            • B4GALT1-CDG (GDGDB) [B4GALT1]
      • Neurologic Manifestations
        • Neuromuscular Manifestations
          • Muscle Hypotonia
            • B4GALT1-CDG (GDGDB) [B4GALT1]
          • Muscle Weakness
            • B4GALT1-CDG (GDGDB) [B4GALT1]
  • Psychiatry and Psychology
    • Mental Disorders
      • Mental Disorders Diagnosed in Childhood
        • Developmental Disabilities
          • B4GALT1-CDG (GDGDB) [B4GALT1]
        • Motor Skills Disorders
          • B4GALT1-CDG (GDGDB) [B4GALT1]