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Turner syndrome

Disease definition

Turner syndrome is a chromosomal disorder associated with the complete or partial absence of an X chromosome.

ORPHA:881

  • Synonym(s):
    • 45,X syndrome
    • 45,X/46,XX syndrome
  • Prevalence: 1-5 / 10 000
  • Inheritance: Not applicable or Unknown 
  • Age of onset: Infancy, Neonatal, Antenatal, Childhood
  • ICD-10: Q96.0  Q96.1  Q96.2  Q96.3  Q96.4  Q96.8  Q96.9
  • OMIM: -
  • UMLS: C0041408  C0242526
  • MeSH: D014424
  • GARD: 7831
  • MedDRA: 10045181

Detailed information

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