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Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Abnormalities, Multiple > Netherton Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Skin Diseases, Genetic > Ichthyosiform Erythroderma, Congenital > Netherton Syndrome
Skin and Connective Tissue Diseases > Skin Diseases > Skin Diseases, Genetic > Ichthyosiform Erythroderma, Congenital > Netherton Syndrome
... > Skin and Connective Tissue Diseases > Skin Diseases > Keratosis > Ichthyosis > Ichthyosiform Erythroderma, Congenital > Netherton Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Infant, Newborn, Diseases > Ichthyosis > Ichthyosiform Erythroderma, Congenital > Netherton Syndrome
... > Skin and Connective Tissue Diseases > Skin Diseases > Skin Abnormalities > Ichthyosis > Ichthyosiform Erythroderma, Congenital > Netherton Syndrome
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Skin Abnormalities > Ichthyosis > Ichthyosiform Erythroderma, Congenital > Netherton Syndrome

Terme préférentiel

Netherton Syndrome  

Type

  • mesh:Descriptor

Définition

  • 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.

Concept générique

Concepts associés

Synonyme(s)

  • Netherton Disease

Qualificatif(s) autorisé(s)

Traductions

URI

http://data.loterre.fr/ark:/67375/JVR-DVJD533L-8

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RDF/XML TURTLE JSON-LD Date de création 06/07/2009, dernière modification le 27/02/2017