Legend:

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

'Cardiovascular Diseases'  (Integration tree)

Pathogenesis (traditional nomenclature)

• Genetic disorders of glycan synthesis (traditional nomenclature)

Pathogenesis (new nomenclature)

• Genetic disorders of glycan synthesis (new nomenclature)

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

• 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]