Legend:

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

'Pathological Conditions, Signs and Symptoms'  (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
    • 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]
      • Pathological Conditions, Anatomical
        • Hernia
          • Hernia, Abdominal
            • Hernia, Inguinal
              • ATP6VOA2-CDG [ATP6V0A2]
              • Achondrogenesis type IB [SLC26A2]
              • Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
              • Bruck syndrome 2 (GDGDB) [PLOD2]
              • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
            • Hernia, Ventral
              • Hernia, Umbilical
                • Achondrogenesis type IB [SLC26A2]
        • Rupture, Spontaneous
          • Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
          • Lysyl hydroxylase 3 deficiency (GDGDB) [PLOD3]
      • Signs and Symptoms
        • Body Temperature Changes
          • Fever
            • COG7-CDG (GDGDB) [COG7]
            • TMEM165-CDG [TMEM165]
          • ALG11-CDG [ALG11]
        • Edema
          • Hydrops Fetalis
            • PMM2-CDG (GDGDB) [PMM2]
              • PMM2-CDG, infantile multisystem stage [PMM2]
            • ALG1-CDG (GDGDB) [ALG1]
            • SLC35D1-CDG [SLC35D1]
          • ALG12-CDG (GDGDB) [ALG12]
          • GCS1-CDG (GDGDB) [GCS1]
          • Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
          • ALG13-CDG [ALG13]
        • Mobility Limitation
          • PMM2-CDG (GDGDB) [PMM2]
            • PMM2-CDG, late-infantile and childhood ataxia-intellectual disability stage [PMM2]
            • PMM2-CDG, adult stable disability stage [PMM2]
          • ALG6-CDG (GDGDB) [ALG6]
          • POMT1/POMT2-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMT1,POMT2]
          • POMGNT1-CDG (cong. muscular dystrophy spectrum) (GDGDB) [POMGNT1]
          • Fukuyama congenital muscular dystrophy (GDGDB) [FKTN]
          • Muscular dystrophy, limb-girdle, type 2M (GDGDB) [FKTN]
          • Cardiomyopathy, dilated, 1X (GDGDB) [FKTN]
          • Muscular dystrophy, congenital, type 1C (GDGDB) [FKRP]
          • Muscular dystrophy, limb-girdle, type 2I (GDGDB) [FKRP]
          • LARGE-CDG (cong. muscular dystrophy spectrum) [LARGE]
          • Duchenne muscular dystrophy [DMD]
          • Hereditary inclusion body myopathy type 2 [GNE]
          • Nonaka myopathy (GDGDB) [GNE]
          • EXT1/EXT2-CDG [EXT1,EXT2]
          • Diastrophic dysplasia [SLC26A2]
          • Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
          • ST3GAL5-CDG [SIAT9]
          • DPM3-CDG [DPM3]
          • Spondyloepiphyseal dysplasia with congenital joint dislocations [CHST3]
          • Hyperphosphatasia with mental retardation syndrome 1 [PIGV]
        • Signs and Symptoms, Digestive
          • Constipation
            • DDOST-CDG [DDOST]
          • Diarrhea
            • PMM2-CDG (GDGDB) [PMM2]
              • PMM2-CDG, infantile multisystem stage [PMM2]
            • MPI-CDG (GDGDB) [MPI]
            • ALG3-CDG (GDGDB) [ALG3]
            • ALG8-CDG (GDGDB) [ALG8]
            • MGAT2-CDG (GDGDB) [MGAT2]
            • COG4-CDG [COG4]
            • COG6-CDG [COG6]
          • Vomiting
            • PMM2-CDG (GDGDB) [PMM2]
              • PMM2-CDG, infantile multisystem stage [PMM2]
            • MPI-CDG (GDGDB) [MPI]
            • ALG3-CDG (GDGDB) [ALG3]
            • ALG8-CDG (GDGDB) [ALG8]
            • ST3GAL5-CDG [SIAT9]
            • ALG11-CDG [ALG11]
            • COG6-CDG [COG6]
          • Abdominal Pain
            • Paroxysmal nocturnal hemoglobinuria, somatic (SOMATIC MUTATION) (GDGDB) [PIGA]
          • ALG3-CDG (GDGDB) [ALG3]
          • MGAT2-CDG (GDGDB) [MGAT2]
        • Urological Manifestations
          • Proteinuria
            • Hemoglobinuria
              • Paroxysmal nocturnal hemoglobinuria, somatic (SOMATIC MUTATION) (GDGDB) [PIGA]
        • Failure to Thrive
          • 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]
          • COG8-CDG [COG8]
          • COG4-CDG [COG4]
          • ATP6VOA2-CDG [ATP6V0A2]
          • ST3GAL5-CDG [SIAT9]
          • ALG11-CDG [ALG11]
          • DDOST-CDG [DDOST]
          • COG6-CDG [COG6]
        • Fatigue
          • Paroxysmal nocturnal hemoglobinuria, somatic (SOMATIC MUTATION) (GDGDB) [PIGA]
          • PGM1-CDG [PGM1]
        • Reticulocytosis
          • SEC23B-CDG (GDGDB) [SEC23B]
        • Virilism
          • ALG6-CDG (GDGDB) [ALG6]