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Ring dermoid of cornea

Disease definition

Ring dermoid of cornea is characterised by annular limbal dermoids (growths with a skin-like structure) with corneal and conjunctival extension. Less than 30 cases have been described. Transmission is autosomal dominant and mutations in the PITX2 gene have been suggested as a potential cause of the condition.

ORPHA:91481

Classification level: Disorder
  • Synonym(s):
    • Ring dermoid syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy, Neonatal
  • ICD-10: D31.1
  • OMIM: 180550
  • UMLS: C1867155
  • MeSH: C535684
  • GARD: 9696
  • MedDRA: -
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