Disease-gene associations mined from literature

Human genes for Netherton syndrome

Netherton syndrome [DOID:0050474]

An autosomal recessive 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