"Netherton Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
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.
| Descriptor ID |
D056770
|
| MeSH 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
|
| Concept/Terms |
|
Below are MeSH descriptors whose meaning is more general than "Netherton Syndrome".
- Diseases [C]
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Congenital Abnormalities [C16.131]
- Abnormalities, Multiple [C16.131.077]
- Netherton Syndrome [C16.131.077.619]
- Skin Abnormalities [C16.131.831]
- Ichthyosis [C16.131.831.512]
- Ichthyosiform Erythroderma, Congenital [C16.131.831.512.400]
- Netherton Syndrome [C16.131.831.512.400.705]
- Genetic Diseases, Inborn [C16.320]
- Skin Diseases, Genetic [C16.320.850]
- Netherton Syndrome [C16.320.850.673]
- Infant, Newborn, Diseases [C16.614]
- Ichthyosis [C16.614.492]
- Ichthyosiform Erythroderma, Congenital [C16.614.492.400]
- Netherton Syndrome [C16.614.492.400.705]
- Skin and Connective Tissue Diseases [C17]
- Skin Diseases [C17.800]
- Keratosis [C17.800.428]
- Ichthyosis [C17.800.428.333]
- Ichthyosiform Erythroderma, Congenital [C17.800.428.333.250]
- Netherton Syndrome [C17.800.428.333.250.705]
- Skin Abnormalities [C17.800.804]
- Ichthyosis [C17.800.804.512]
- Ichthyosiform Erythroderma, Congenital [C17.800.804.512.400]
- Netherton Syndrome [C17.800.804.512.400.705]
- Skin Diseases, Genetic [C17.800.827]
- Netherton Syndrome [C17.800.827.655]
Below are MeSH descriptors whose meaning is more specific than "Netherton Syndrome".
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Below are the most recent publications written about "Netherton Syndrome" by people in Profiles.