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Persistent Müllerian duct syndrome

Disease definition

Persistent Müllerian duct syndrome (PMDS) is a rare disorder of sex development (DSD) characterized by the persistence of Müllerian derivatives, the uterus and/or fallopian tubes, in otherwise normally virilized boys.

ORPHA:2856

  • Synonym(s):
    • PMDS
    • Persistent Müllerian derivatives
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Childhood, Adolescent, Adult
  • ICD-10: Q55.8
  • OMIM: 261550
  • UMLS: C1849930
  • MeSH: C536665
  • GARD: 8435
  • MedDRA: -

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