Human genes for Netherton syndrome
Netherton syndrome [DOID:0050474]
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: Netherton syndrome, DOID:0050474, Netherton disease, Netherton disorder, Netherton syndromes
Linkouts: OMIM