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
              • Digestive System Diseases
                • Gastrointestinal Diseases
                  • Esophageal Diseases
                    • Deglutition Disorders
                      • Esophageal Motility Disorders
                        • Esophageal Spasm, Diffuse
                          • Paroxysmal nocturnal hemoglobinuria, somatic (SOMATIC MUTATION) (GDGDB) [PIGA]
                  • Intestinal Diseases
                    • Protein-Losing Enteropathies
                      • MPI-CDG (GDGDB) [MPI]
                      • ALG6-CDG (GDGDB) [ALG6]
                      • ALG8-CDG (GDGDB) [ALG8]
                    • ALG8-CDG (GDGDB) [ALG8]
                  • Gastrointestinal Hemorrhage
                    • MPI-CDG (GDGDB) [MPI]
                    • ALG11-CDG [ALG11]
                  • COG6-CDG [COG6]
                  • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
                  • Multiple congenital anomalies-hypotonia-seizures syndrome 1 [PIGN]
                • Liver Diseases
                  • Hepatomegaly
                    • MPI-CDG (GDGDB) [MPI]
                    • ALG8-CDG (GDGDB) [ALG8]
                    • ALG2-CDG (GDGDB) [ALG2]
                    • ALG1-CDG (GDGDB) [ALG1]
                    • ALG9-CDG (GDGDB) [ALG9]
                    • RFT1-CDG [RFT1]
                    • GCS1-CDG (GDGDB) [GCS1]
                    • B4GALT1-CDG (GDGDB) [B4GALT1]
                    • COG7-CDG (GDGDB) [COG7]
                    • COG1-CDG [COG1]
                    • COG4-CDG [COG4]
                    • PIGM-CDG [PIGM]
                    • ALG13-CDG [ALG13]
                    • TMEM165-CDG [TMEM165]
                    • COG6-CDG [COG6]
                  • Hepatic Insufficiency
                    • PMM2-CDG (GDGDB) [PMM2]
                  • Hypertension, Portal
                    • PIGM-CDG [PIGM]
                  • Liver Cirrhosis
                    • PMM2-CDG (GDGDB) [PMM2]
                      • PMM2-CDG, infantile multisystem stage [PMM2]
                    • COG4-CDG [COG4]
                    • COG6-CDG [COG6]
                  • PMM2-CDG (GDGDB) [PMM2]
                  • MPI-CDG (GDGDB) [MPI]
                  • ALG3-CDG (GDGDB) [ALG3]
                  • ALG8-CDG (GDGDB) [ALG8]
                  • ALG1-CDG (GDGDB) [ALG1]
                  • SRD5A3-CDG [SRD5A3]
                  • DDOST-CDG [DDOST]
                  • PGM1-CDG [PGM1]
                  • COG6-CDG [COG6]
                • Biliary Tract Diseases
                  • Cholelithiasis
                    • SEC23B-CDG (GDGDB) [SEC23B]
                • Digestive System Abnormalities
                  • Anus, Imperforate
                    • Hyperphosphatasia with mental retardation syndrome 1 [PIGV]
                    • Multiple congenital anomalies-hypotonia-seizures syndrome 1 [PIGN]
                  • COG6-CDG [COG6]
                  • Hyperphosphatasia with mental retardation syndrome 1 [PIGV]
                  • Multiple congenital anomalies-hypotonia-seizures syndrome 1 [PIGN]
      • Lysosomal Storage Diseases (degradation)
        • Hereditary disorders by systems
          • Genetic disorders of glycan degradation (by systems, signs and symptoms)
            • Diseases
              • Digestive System Diseases
                • Gastrointestinal Diseases
                  • Fabry disease (GDGDB) [GLA]
                • Liver Diseases
                  • Hepatomegaly
                    • Fucosidosis (GDGDB) [FUCA1]
                    • Alpha-mannosidosis (GDGDB) [MAN2B1]
                    • Sialidosis (GDGDB) [NEU1]
                    • Schindler disease
                    • Galactosialidosis (GDGDB) [CTSA]
                    • Hurler syndrome (GDGDB) [IDUA]
                    • Hurler-Scheie syndrome (GDGDB) [IDUA]
                    • Scheie syndrome (GDGDB) [IDUA]
                    • Mucopolysaccharidosis II (GDGDB) [IDS]
                    • Sanfilippo syndrome A (GDGDB) [SGSH]
                    • Sanfilippo syndrome B (GDGDB) [NAGLU]
                    • Sanfilippo syndrome C (GDGDB) [HGSNAT]
                    • Sanfilippo syndrome D (GDGDB) [GNS]
                    • Morquio syndrome A (GDGDB) [GALNS]
                    • Morquio syndrome B (GDGDB) [GLB1]
                    • Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
                    • Mucopolysaccharidosis VII (GDGDB) [GUSB]
                    • GM1-gangliosidosis, type I (GDGDB) [GLB1]
                    • GM1-gangliosidosis, type II (GDGDB) [GLB1]
                    • GM1-gangliosidosis, type III (GDGDB) [GLB1]
                    • Sandhoff disease (GDGDB) [HEXB]
                    • Gaucher disease, type I (GDGDB) [GBA]
                    • Gaucher disease, type II (GDGDB) [GBA]
                    • Gaucher disease, type III (GDGDB) [GBA]
                    • Gaucher disease, type IIIC (GDGDB) [GBA]
                    • Gaucher disease, atypical, due to saposin C deficiency (GDGDB) [PSAP]
                    • Multiple sulfatase deficiency (GDGDB) [SUMF1]
                    • Niemann-Pick disease, type A (GDGDB) [SMPD1]
                    • Niemann-Pick disease, type B (GDGDB) [SMPD1]
                    • Niemann-Pick disease, type C1 (GDGDB) [NPC1]
                    • Niemann-Pick disease, type C2 (GDGDB) [NPC2]
                    • Farber Lipogranulomatosis (GDGDB) [ASAH1]
                    • Combined saposin deficiency (GDGDB) [PSAP]
                    • Wolman disease (GDGDB) [LIPA]
                    • Pompe disease (GDGDB) [GAA]
                      • Pompe disease, infantile-onset form [GAA]
                  • Niemann-Pick disease, type C1 (GDGDB) [NPC1]
                  • Niemann-Pick disease, type C2 (GDGDB) [NPC2]