Legend:

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

'Skin and Connective Tissue 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
    • Skin and Connective Tissue Diseases
      • Connective Tissue Diseases
        • Cutis Laxa
          • COG7-CDG (GDGDB) [COG7]
          • ATP6VOA2-CDG [ATP6V0A2]
          • B4GALT7-CDG [B4GALT7]
        • Collagen Diseases
          • Ehlers-Danlos Syndrome
          • Osteogenesis Imperfecta
            • Bruck syndrome 2 (GDGDB) [PLOD2]
            • TMEM165-CDG [TMEM165]
            • Spondyloepiphyseal dysplasia with congenital joint dislocations [CHST3]
        • B4GALT7-CDG [B4GALT7]
        • Lysyl hydroxylase 3 deficiency (GDGDB) [PLOD3]
        • Cartilage Diseases
          • Spondyloepimetaphyseal dysplasia, pakistani type [PAPSS2]
          • Diastrophic dysplasia [SLC26A2]
          • Achondrogenesis type IB [SLC26A2]
          • Neonatal osseous dysplasia I [SLC26A2]
          • Autosomal recessive multiple epiphyseal dysplasia [SLC26A2]
          • SLC35D1-CDG [SLC35D1]
        • Spondyloepiphyseal dysplasia with congenital joint dislocations [CHST3]
        • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
      • 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]
        • Dermatitis
          • Dermatitis, Exfoliative
            • MPDU1-CDG (GDGDB) [MPDU1]
        • Hair Diseases
          • Hypotrichosis
            • Alopecia
              • DOLK-CDG [TMEM15]
          • Hypertrichosis
            • SRD5A3-CDG [SRD5A3]
        • Skin Diseases, Genetic
          • Ehlers-Danlos Syndrome
            • Ehlers-Danlos syndrome, type VI (GDGDB) (GDGDB) [PLOD1]
          • ALG11-CDG [ALG11]
          • SRD5A3-CDG [SRD5A3]
          • Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects [B3GAT3]
          • Ehlers-Danlos syndrome, musculocontractural type [CHST14]