Visualize Submit Comment

Metadata
ID	DOID:0050474
Name	Netherton syndrome
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. https://ghr.nlm.nih.gov/condition/netherton-syndrome
Xrefs	GARD:7182 OMIM:256500 ORDO:634 SNOMEDCT_US_2023_03_01:312514006 UMLS_CUI:C0265962
Subsets	DO_rare_slim
Parent Relationships	is_a skin disease is_a autosomal recessive disease