Netherton Syndrome

MeSH code information
  • Name
  • Concept
    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.
  • Tree numbers
    • 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
Netherton Syndrome - MeSH Info at
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