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
              • Cardiovascular Diseases
                • Cardiovascular Abnormalities
                  • Heart Defects, Congenital
                    • PMM2-CDG (GDGDB) [PMM2]
                      • PMM2-CDG, infantile multisystem stage [PMM2]
                    • COG1-CDG [COG1]
                    • B3GALTL-CDG [B3GALTL]
                    • SRD5A3-CDG [SRD5A3]
                    • Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects [B3GAT3]
                    • Spondyloepiphyseal dysplasia with congenital joint dislocations [CHST3]
                    • Hyperphosphatasia with mental retardation syndrome 1 [PIGV]
                    • Multiple congenital anomalies-hypotonia-seizures syndrome 1 [PIGN]
                • Heart Diseases
                  • Cardiomegaly
                    • Cardiomyopathy, dilated, 1X (GDGDB) [FKTN]
                  • Heart Failure
                    • DOLK-CDG [TMEM15]
                    • Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
                  • Heart Valve Diseases
                    • Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
                  • Cardiomyopathies
                    • Endomyocardial Fibrosis
                      • Fukuyama congenital muscular dystrophy (GDGDB) [FKTN]
                    • PMM2-CDG (GDGDB) [PMM2]
                      • PMM2-CDG, infantile multisystem stage [PMM2]
                    • ALG1-CDG (GDGDB) [ALG1]
                    • DOLK-CDG [TMEM15]
                    • Fukuyama congenital muscular dystrophy (GDGDB) [FKTN]
                    • Muscular dystrophy, limb-girdle, type 2M (GDGDB) [FKTN]
                    • Cardiomyopathy, dilated, 1X (GDGDB) [FKTN]
                    • Muscular dystrophy, limb-girdle, type 2I (GDGDB) [FKRP]
                    • Duchenne muscular dystrophy [DMD]
                    • DPM3-CDG [DPM3]
                    • PGM1-CDG [PGM1]
                  • Pericardial Effusion
                    • PMM2-CDG (GDGDB) [PMM2]
                      • PMM2-CDG, infantile multisystem stage [PMM2]
                      • PMM2-CDG, late-infantile and childhood ataxia-intellectual disability stage [PMM2]
                      • PMM2-CDG, adult stable disability stage [PMM2]
                    • ALG9-CDG (GDGDB) [ALG9]
                  • Arrhythmias, Cardiac
                    • DOLK-CDG [TMEM15]
                  • ALG12-CDG (GDGDB) [ALG12]
                  • ALG8-CDG (GDGDB) [ALG8]
                  • Cardiomyopathy, dilated, 1X (GDGDB) [FKTN]
                  • Muscular dystrophy, limb-girdle, type 2I (GDGDB) [FKRP]
                  • DPM3-CDG [DPM3]
                  • SRD5A3-CDG [SRD5A3]
                  • PGM1-CDG [PGM1]
                  • Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects [B3GAT3]
                  • Spondyloepiphyseal dysplasia with congenital joint dislocations [CHST3]
                  • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
                  • Hyperphosphatasia with mental retardation syndrome 1 [PIGV]
                  • Multiple congenital anomalies-hypotonia-seizures syndrome 1 [PIGN]
                • Vascular Diseases
                  • Aneurysm
                    • Aneurysm, Dissecting
                      • Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
                    • Aneurysm, Ruptured
                      • Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
                      • Lysyl hydroxylase 3 deficiency (GDGDB) [PLOD3]
                    • Intracranial Aneurysm
                      • Lysyl hydroxylase 3 deficiency (GDGDB) [PLOD3]
                    • Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
                    • Lysyl hydroxylase 3 deficiency (GDGDB) [PLOD3]
                  • Embolism and Thrombosis
                    • Thrombosis
                      • Venous Thrombosis
                        • PMM2-CDG (GDGDB) [PMM2]
                          • PMM2-CDG, adult stable disability stage [PMM2]
                        • ALG6-CDG (GDGDB) [ALG6]
                        • PIGM-CDG [PIGM]
                      • Paroxysmal nocturnal hemoglobinuria, somatic (SOMATIC MUTATION) (GDGDB) [PIGA]
                      • PGM1-CDG [PGM1]
                  • Cerebrovascular Disorders
                    • PMM2-CDG (GDGDB) [PMM2]
                      • PMM2-CDG, infantile multisystem stage [PMM2]
                      • PMM2-CDG, late-infantile and childhood ataxia-intellectual disability stage [PMM2]
                      • PMM2-CDG, adult stable disability stage [PMM2]
                    • DPM3-CDG [DPM3]
                    • PGM1-CDG [PGM1]
                  • Hemostatic Disorders
                    • Ehlers-Danlos Syndrome
                      • Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
      • Lysosomal Storage Diseases (degradation)
        • Hereditary disorders by systems
          • Genetic disorders of glycan degradation (by systems, signs and symptoms)
            • Diseases
              • Cardiovascular Diseases
                • Cardiovascular Abnormalities
                  • Heart Defects, Congenital
                    • Mucopolysaccharidosis II (GDGDB) [IDS]
                    • Pompe disease (GDGDB) [GAA]
                      • Pompe disease, infantile-onset form [GAA]
                • Heart Diseases
                  • Cardiomegaly
                    • Schindler disease
                    • Galactosialidosis (GDGDB) [CTSA]
                    • Mucopolysaccharidosis II (GDGDB) [IDS]
                    • GM1-gangliosidosis, type I (GDGDB) [GLB1]
                    • GM1-gangliosidosis, type II (GDGDB) [GLB1]
                    • GM1-gangliosidosis, type III (GDGDB) [GLB1]
                    • Pompe disease (GDGDB) [GAA]
                      • Pompe disease, infantile-onset form [GAA]
                  • Heart Failure
                    • Mucopolysaccharidosis I
                    • Mucopolysaccharidosis II (GDGDB) [IDS]
                    • Mucopolysaccharidosis III
                    • Mucopolysaccharidosis IV
                    • Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
                    • Mucopolysaccharidosis VII (GDGDB) [GUSB]
                    • Pompe disease (GDGDB) [GAA]
                      • Pompe disease, infantile-onset form [GAA]
                  • Heart Valve Diseases
                    • Galactosialidosis (GDGDB) [CTSA]
                    • Mucolipidosis II (alpha/beta) (GDGDB) [GNPTAB]
                    • Mucolipidosis III (alpha/beta) (GDGDB) [GNPTAB]
                    • Hurler syndrome (GDGDB) [IDUA]
                    • Hurler-Scheie syndrome (GDGDB) [IDUA]
                    • Scheie syndrome (GDGDB) [IDUA]
                    • Mucopolysaccharidosis II (GDGDB) [IDS]
                    • Mucopolysaccharidosis III
                    • Morquio syndrome A (GDGDB) [GALNS]
                    • Morquio syndrome B (GDGDB) [GLB1]
                    • Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
                    • Mucopolysaccharidosis VII (GDGDB) [GUSB]
                    • Gaucher disease, type IIIC (GDGDB) [GBA]
                  • Hurler syndrome (GDGDB) [IDUA]
                  • Hurler-Scheie syndrome (GDGDB) [IDUA]
                  • Scheie syndrome (GDGDB) [IDUA]
                  • Mucopolysaccharidosis II (GDGDB) [IDS]
                  • 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]
                  • Gaucher disease, type IIIC (GDGDB) [GBA]
                  • Pompe disease (GDGDB) [GAA]
                  • Myocardial Ischemia
                    • Coronary Disease
                      • Coronary Artery Disease
                        • Hurler syndrome (GDGDB) [IDUA]
                        • Hurler-Scheie syndrome (GDGDB) [IDUA]
                        • Scheie syndrome (GDGDB) [IDUA]
                        • Mucopolysaccharidosis II (GDGDB) [IDS]
                        • Mucopolysaccharidosis III
                        • Mucopolysaccharidosis IV
                        • Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
                        • Mucopolysaccharidosis VII (GDGDB) [GUSB]
                        • Niemann-Pick disease, type B (GDGDB) [SMPD1]
                      • Myocardial Infarction
                        • Fabry disease (GDGDB) [GLA]
                • Vascular Diseases
                  • Peripheral Vascular Diseases
                    • Mucopolysaccharidosis I
                    • Mucopolysaccharidosis II (GDGDB) [IDS]
                    • Mucopolysaccharidosis III
                    • Mucopolysaccharidosis IV
                    • Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
                    • Mucopolysaccharidosis VII (GDGDB) [GUSB]
                  • Cerebrovascular Disorders
                    • Stroke
                      • Fabry disease (GDGDB) [GLA]
                  • Myocardial Ischemia
                    • Coronary Disease
                      • Coronary Artery Disease
                        • Hurler syndrome (GDGDB) [IDUA]
                        • Hurler-Scheie syndrome (GDGDB) [IDUA]
                        • Scheie syndrome (GDGDB) [IDUA]
                        • Mucopolysaccharidosis II (GDGDB) [IDS]
                        • Mucopolysaccharidosis III
                        • Mucopolysaccharidosis IV
                        • Mucopolysaccharidosis VI (GDGDB) (GDGDB) [ARSB]
                        • Mucopolysaccharidosis VII (GDGDB) [GUSB]
                        • Niemann-Pick disease, type B (GDGDB) [SMPD1]
                      • Myocardial Infarction
                        • Fabry disease (GDGDB) [GLA]