Legend:

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

'Tumoral calcinosis, hyperphosphatemic, familial' 'GALNT3-CDG'  (Integration tree)

Pathogenesis (traditional nomenclature)

• Genetic disorders of glycan synthesis (traditional nomenclature)
  • Disorders of O-linked glycosylation
    • Defects in O-GalNAc glycans
      • Tumoral calcinosis, hyperphosphatemic, familial [GALNT3]

Pathogenesis (new nomenclature)

• Genetic disorders of glycan synthesis (new nomenclature)
  • Congenital disorders of glycosylation (CDGs)
    • Defects in protein O-glycosylation
      • Defects in O-GalNAc glycan biosynthesis
        • GALNT3-CDG [GALNT3]

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

• Genetic disorders of glycan synthesis (by systems, signs and symptoms)
  • Diseases
    • Skin and Connective Tissue Diseases
      • Skin Diseases
        • Skin Abnormalities
          • GALNT3-CDG [GALNT3]
    • Stomatognathic Diseases
      • Stomatognathic System Abnormalities
        • Tooth Abnormalities
          • Dental Enamel Hypoplasia
            • GALNT3-CDG [GALNT3]
    • Nutritional and Metabolic Diseases
      • Metabolic Diseases
        • Calcium Metabolism Disorders
          • Calcinosis
            • Vascular Calcification
              • GALNT3-CDG [GALNT3]
            • GALNT3-CDG [GALNT3]
        • Phosphorus Metabolism Disorders
          • Hyperphosphatemia
            • GALNT3-CDG [GALNT3]