Legend:

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

'Ehlers-Danlos syndrome, progeroid form' 'B4GALT7-CDG'  (Integration tree)

Pathogenesis (traditional nomenclature)

• Genetic disorders of glycan synthesis (traditional nomenclature)
  • Disorders of O-linked glycosylation
    • Defects in O-xylose glycosaminoglycans
      • Ehlers-Danlos syndrome, progeroid form [B4GALT7]

Pathogenesis (new nomenclature)

• Genetic disorders of glycan synthesis (new nomenclature)
  • Congenital disorders of glycosylation (CDGs)
    • Defects in protein O-glycosylation
      • Defects in O-xylosylglycan synthesis
        • Linkage glycan defects
          • B4GALT7-CDG [B4GALT7]

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

• Genetic disorders of glycan synthesis (by systems, signs and symptoms)
  • Diseases
    • Musculoskeletal Diseases
      • Bone Diseases
        • Bone Diseases, Developmental
          • Dwarfism
            • B4GALT7-CDG [B4GALT7]
        • Bone Diseases, Metabolic
          • Osteoporosis
            • B4GALT7-CDG [B4GALT7]
      • Joint Diseases
        • Joint Instability
          • B4GALT7-CDG [B4GALT7]
      • Musculoskeletal Abnormalities
        • Craniofacial Abnormalities
          • Maxillofacial Abnormalities
            • B4GALT7-CDG [B4GALT7]
          • B4GALT7-CDG [B4GALT7]
    • Nervous System Diseases
      • Neurologic Manifestations
        • Neurobehavioral Manifestations
          • Intellectual Disability
            • B4GALT7-CDG [B4GALT7]
        • Neuromuscular Manifestations
          • Muscle Hypotonia
            • B4GALT7-CDG [B4GALT7]
    • Skin and Connective Tissue Diseases
      • Connective Tissue Diseases
        • Cutis Laxa
          • B4GALT7-CDG [B4GALT7]
        • B4GALT7-CDG [B4GALT7]
    • Stomatognathic Diseases
      • Stomatognathic System Abnormalities
        • Tooth Abnormalities
          • B4GALT7-CDG [B4GALT7]
  • Psychiatry and Psychology
    • Mental Disorders
      • Mental Disorders Diagnosed in Childhood
        • Developmental Disabilities
          • B4GALT7-CDG [B4GALT7]
        • Intellectual Disability
          • B4GALT7-CDG [B4GALT7]