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Concept information

Preferred term

Pachyonychia Congenita  

Type

  • Topical Descriptor

Narrower concepts

Entry terms

  • Congenital Pachyonychia
  • Pachyonychia, Congenital
  • Pachyonychia Congenita Syndrome

Scope note

  • A group of inherited ectodermal dysplasias whose most prominent clinical feature is hypertrophic nail dystrophy resulting in PACHYONYCHIA. Several specific subtypes of pachyonychia congenita have been associated with mutations in genes that encode KERATINS.

History note

  • 2007

In other languages

URI

http://www.yso.fi/onto/mesh/D053549

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