Term Name: | Netherton syndrome |
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Synonyms: | |
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. |
Ontology: | Human Disease [DOID:0050474] ( DOID:0050474 ) |