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Netherton Syndrome

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.

Year introduced: 2010

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Subheadings:

Tree Number(s): C16.131.077.619, C16.131.831.512.400.705, C16.320.850.673, C16.614.492.400.705, C17.800.428.333.250.705, C17.800.804.512.400.705, C17.800.827.655

MeSH Unique ID: D056770

Entry Terms:

  • Netherton Disease

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