Legend:

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

'Ehlers-Danlos syndrome, musculocontractural type'  (Integration tree)

Pathogenesis (traditional nomenclature)

• Genetic disorders of glycan synthesis (traditional nomenclature)

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
        • Defective GAG Sulfation
          • Ehlers-Danlos syndrome, musculocontractural type [CHST14]

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

• Genetic disorders of glycan synthesis (by systems, signs and symptoms)
  • Diseases
    • Cardiovascular Diseases
      • Heart Diseases
        • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
    • Digestive System Diseases
      • Gastrointestinal Diseases
        • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
    • Eye Diseases
      • Corneal Diseases
        • Corneal Dystrophies, Hereditary
          • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
      • Ocular Hypertension
        • Glaucoma
          • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
      • Retinal Diseases
        • Retinal Detachment
          • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
      • Eye Diseases, Hereditary
        • Corneal Dystrophies, Hereditary
          • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
        • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
      • Refractive Errors
        • Myopia
          • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
    • Female Urogenital Diseases and Pregnancy Complications
      • Female Urogenital Diseases
        • Urologic Diseases
          • Kidney Diseases
            • Nephrosis
              • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
        • Urogenital Abnormalities
          • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
    • Male Urogenital Diseases
      • Urologic Diseases
        • Kidney Diseases
          • Nephrosis
            • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
      • Urogenital Abnormalities
        • Cryptorchidism
          • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
        • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
    • Musculoskeletal Diseases
      • Bone Diseases
        • Bone Diseases, Developmental
          • Dwarfism
            • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
        • Spinal Diseases
          • Spinal Curvatures
            • Kyphosis
              • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
            • Scoliosis
              • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
      • Joint Diseases
        • Contracture
          • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
        • Joint Instability
          • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
      • Musculoskeletal Abnormalities
        • Craniofacial Abnormalities
          • Craniofacial Dysostosis
            • Hypertelorism
              • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
          • Maxillofacial Abnormalities
            • Jaw Abnormalities
              • Cleft Palate
                • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
            • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
          • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
        • Limb Deformities, Congenital
          • Lower Extremity Deformities, Congenital
            • Foot Deformities, Congenital
              • Clubfoot
                • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
              • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
          • Upper Extremity Deformities, Congenital
            • Hand Deformities, Congenital
              • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
        • Arthrogryposis
          • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
      • Muscular Diseases
        • Muscle Weakness
          • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
    • Nervous System Diseases
      • Neurologic Manifestations
        • Neuromuscular Manifestations
          • Muscle Hypotonia
            • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
          • Muscle Weakness
            • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
    • Pathological Conditions, Signs and Symptoms
      • Pathologic Processes
        • Hemorrhage
          • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
      • Pathological Conditions, Anatomical
        • Hernia
          • Hernia, Abdominal
            • Hernia, Inguinal
              • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
    • Respiratory Tract Diseases
      • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
    • Skin and Connective Tissue Diseases
      • Connective Tissue Diseases
        • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
      • Skin Diseases
        • Skin Abnormalities
          • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
        • Skin Diseases, Genetic
          • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
    • Stomatognathic Diseases
      • Stomatognathic System Abnormalities
        • Mouth Abnormalities
          • Cleft Lip
            • Cleft Palate
              • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
        • Maxillofacial Abnormalities
          • Jaw Abnormalities
            • Cleft Palate
              • Ehlers-Danlos syndrome, musculocontractural type [CHST14]
  • Psychiatry and Psychology
    • Mental Disorders
      • Mental Disorders Diagnosed in Childhood
        • Motor Skills Disorders
          • Ehlers-Danlos syndrome, musculocontractural type [CHST14]