Term Name: Netherton syndrome
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 )

Relationships
is a type of: autosomal recessive disease skin disease