Legend:

• Concept Types
  • target (clinical findings)
  • 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)
        • Hereditary disorders by systems
          • Genetic disorders of glycan synthesis (by systems, signs and symptoms)
            • Diseases
              • Pathological Conditions, Signs and Symptoms
                • Pathologic Processes
                  • Growth Disorders
                    • Fetal Growth Retardation
                      • Diastrophic dysplasia [SLC26A2]
                      • Achondrogenesis type IB [SLC26A2]
                      • B3GALTL-CDG [B3GALTL]
                      • Lysyl hydroxylase 3 deficiency (GDGDB) [PLOD3]
                      • Multiple congenital anomalies-hypotonia-seizures syndrome 1 [PIGN]
                    • PMM2-CDG (GDGDB) [PMM2]
                      • PMM2-CDG, infantile multisystem stage [PMM2]
                    • MPI-CDG (GDGDB) [MPI]
                    • ALG3-CDG (GDGDB) [ALG3]
                    • MPDU1-CDG (GDGDB) [MPDU1]
                    • ALG12-CDG (GDGDB) [ALG12]
                    • ALG9-CDG (GDGDB) [ALG9]
                    • DOLK-CDG [TMEM15]
                    • RFT1-CDG [RFT1]
                    • MGAT2-CDG (GDGDB) [MGAT2]
                    • SLC35C1-CDG (GDGDB) [SLC35C1]
                    • COG7-CDG (GDGDB) [COG7]
                    • COG1-CDG [COG1]
                    • COG4-CDG [COG4]
                    • ATP6VOA2-CDG [ATP6V0A2]
                    • Diastrophic dysplasia [SLC26A2]
                    • Achondrogenesis type IB [SLC26A2]
                    • B3GALTL-CDG [B3GALTL]
                    • Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
                    • Lysyl hydroxylase 3 deficiency (GDGDB) [PLOD3]
                    • TMEM165-CDG [TMEM165]
                    • Temtamy preaxial brachydactyly syndrome [CHSY1]
                  • Hyperbilirubinemia
                    • Jaundice
                      • DPAGT1-CDG (GDGDB) [DPAGT1]
                      • COG7-CDG (GDGDB) [COG7]
                      • SEC23B-CDG (GDGDB) [SEC23B]
                  • Hemolysis
                    • Paroxysmal nocturnal hemoglobinuria, somatic (SOMATIC MUTATION) (GDGDB) [PIGA]
                  • Hemorrhage
                    • PMM2-CDG (GDGDB) [PMM2]
                    • MGAT2-CDG (GDGDB) [MGAT2]
                    • SLC35A1-CDG [SLC35A1]
                    • Gastrointestinal Hemorrhage
                      • MPI-CDG (GDGDB) [MPI]
                      • ALG11-CDG [ALG11]
                    • ALG13-CDG [ALG13]
                    • COG6-CDG [COG6]
                    • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
                  • Inflammation
                    • Systemic Inflammatory Response Syndrome
                      • Sepsis
                        • COG4-CDG [COG4]
      • Lysosomal Storage Diseases (degradation)
        • Hereditary disorders by systems
          • Genetic disorders of glycan degradation (by systems, signs and symptoms)
            • Diseases
              • Pathological Conditions, Signs and Symptoms
                • Pathologic Processes
                  • Growth Disorders
                    • Niemann-Pick disease, type A (GDGDB) [SMPD1]
                    • Niemann-Pick disease, type B (GDGDB) [SMPD1]
                    • Wolman disease (GDGDB) [LIPA]
                    • Pompe disease (GDGDB) [GAA]
                      • Pompe disease, infantile-onset form [GAA]
                  • Hyperbilirubinemia
                    • Jaundice
                      • Niemann-Pick disease, type A (GDGDB) [SMPD1]
                      • Niemann-Pick disease, type C1 (GDGDB) [NPC1]
                      • Niemann-Pick disease, type C2 (GDGDB) [NPC2]
                      • Wolman disease (GDGDB) [LIPA]