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 (traditional nomenclature)
            • Defects in N-glycan biosynthesis
              • Disorders of N-linked glycosylation - Congenital disorders of glycosylation (CDGs)
                • Type II CDGs
                  • CDG-IId (GDGDB) [B4GALT1]
          • Genetic disorders of glycan synthesis (new nomenclature)
            • Congenital disorders of glycosylation (CDGs)
              • Defects in multiple glycosylation and other pathways
                • B4GALT1-CDG (GDGDB) [B4GALT1]
        • Hereditary disorders by systems
          • 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]