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Concept information

Preferred term

Netherton Syndrome  

Type

  • Topical Descriptor

Entry terms

  • Netherton Disease

Scope note

  • Rare autosomal recessive disease with variable expressions. Clinical features of the disease include variable ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL; bamboo hair (trichorrhexis invaginata); and ATOPIC DERMATITIS. The disease is caused by mutations in the SPINK5 gene.

History note

  • 2010

In other languages

URI

http://www.yso.fi/onto/mesh/D056770

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