Legend:

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

'Skin Abnormalities'  (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
    • Skin and Connective Tissue Diseases
      • Skin Diseases
        • Skin Abnormalities
          • Ichthyosis
            • DOLK-CDG [TMEM15]
            • SRD5A3-CDG [SRD5A3]
          • PMM2-CDG (GDGDB) [PMM2]
            • PMM2-CDG, infantile multisystem stage [PMM2]
          • MPDU1-CDG (GDGDB) [MPDU1]
          • GALNT3-CDG [GALNT3]
          • Ehlers-Danlos Syndrome
            • Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
          • ALG11-CDG [ALG11]
          • Ehlers-Danlos syndrome, musculocontractural type [CHST14]