Number of the records: 1  

Nethertonov syndróm

  1. Record numberd056770
    Date06.06.2025
    TypeM - MESH
    Topical termNethertonov syndróm
    Other termEnglish (Pseudonym) Netherton Disease
    Slovak (Pseudonym) Nethertonova choroba
    See also(Skutočné meno) inhibítory serínových peptidáz Kazalovho typu 5
    (Later heading) inhibítory serínových peptidáz Kazalovho typu 5
    UDCC16.131.077.619C16.131.831.512.400.705C16.320.850.673C16.614.492.400.705C17.800.428.333.250.705C17.800.804.512.400.705C17.800.827.655
    NoteRare 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.
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Number of the records: 1  

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