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Summary Literature (0)
DOID:0050474 - Netherton syndrome

Disease Ontology Definition:A skin disease that is characterized by chronic skin inflammation, trichorrhexis invaginata, atopic dermatitis and has_material_basis_in mutations in the SPINK5 gene resulting in reduced capacity to inhibit serine proteases expressed in the skin.

Synonyms:

Xenbase Genes :

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0009735 - Netherton syndrome


Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), skin disease (is_a)