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Disease Netherton Syndrome

Name Netherton Syndrome
Synonyms COMEL-NETHERTON SYNDROME | Disease, Netherton | ERYTHRODERMA, ICHTHYOSIFORM, WITH HYPOTRICHOSIS AND HYPER-IgE | NETH | Netherton Disease | NS | Syndrome, Netherton
Definition 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.
Categories Congenital abnormality | Genetic disease (inborn) | Infant-newborn disease | Skin disease
MeSH® ID D056770
OMIM® ID 256500
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1. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Congenital Abnormalities Has associated chemicals Has associated genes Has associated exposure references Abnormalities, Multiple Has associated chemicals Has associated genes Netherton Syndrome Has associated chemicals Has associated genes
2. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Congenital Abnormalities Has associated chemicals Has associated genes Has associated exposure references Skin Abnormalities Has associated chemicals Has associated genes Has associated exposure references Ichthyosis Has associated chemicals Has associated genes Has associated exposure references Ichthyosiform Erythroderma, Congenital Has associated chemicals Has associated genes Netherton Syndrome Has associated chemicals Has associated genes
3. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Skin Diseases, Genetic Has associated chemicals Has associated genes Has associated exposure references Netherton Syndrome Has associated chemicals Has associated genes
4. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Infant, Newborn, Diseases Has associated chemicals Has associated genes Has associated exposure references Ichthyosis Has associated chemicals Has associated genes Has associated exposure references Ichthyosiform Erythroderma, Congenital Has associated chemicals Has associated genes Netherton Syndrome Has associated chemicals Has associated genes
5. DiseasesSkin and Connective Tissue Diseases Has associated chemicals Has associated genes Has associated exposure references Skin Diseases Has associated chemicals Has associated genes Has associated exposure references Keratosis Has associated chemicals Has associated genes Has associated exposure references Ichthyosis Has associated chemicals Has associated genes Has associated exposure references Ichthyosiform Erythroderma, Congenital Has associated chemicals Has associated genes Netherton Syndrome Has associated chemicals Has associated genes
6. DiseasesSkin and Connective Tissue Diseases Has associated chemicals Has associated genes Has associated exposure references Skin Diseases Has associated chemicals Has associated genes Has associated exposure references Skin Abnormalities Has associated chemicals Has associated genes Has associated exposure references Ichthyosis Has associated chemicals Has associated genes Has associated exposure references Ichthyosiform Erythroderma, Congenital Has associated chemicals Has associated genes Netherton Syndrome Has associated chemicals Has associated genes
7. DiseasesSkin and Connective Tissue Diseases Has associated chemicals Has associated genes Has associated exposure references Skin Diseases Has associated chemicals Has associated genes Has associated exposure references Skin Diseases, Genetic Has associated chemicals Has associated genes Has associated exposure references Netherton Syndrome Has associated chemicals Has associated genes

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