Netherton syndrome

Term ID

DOID:0050474

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. https://ghr.nlm.nih.gov/condition/netherton-syndrome

References

• GARD:7182
• OMIM:256500
• ORDO:634
• SNOMEDCT_US_2023_03_01:312514006
• UMLS_CUI:C0265962

Ontology

Human Disease   ( DOID:0050474 )