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Netherton Syndrome MeSH Descriptor Data 2021


MeSH Heading
Netherton Syndrome
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
Unique ID
D056770
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D056770
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.
Entry Term(s)
Netherton Disease
Previous Indexing
Ichthyosiform Erythroderma, Congenital (1992-2009)
See Also
Serine Peptidase Inhibitor Kazal-Type 5
Public MeSH Note
2010
History Note
2010
Date Established
2010/01/01
Date of Entry
2009/07/06
Revision Date
2017/02/27
Netherton Syndrome Preferred
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