In-depth human phenotype ontology curation boosts prioritization performance for Netherton syndrome (SPINK5-syndromic epidermal differentiation disorder).

Authors

• Edwin Cuperus
• Suzanne G M A Pasmans
• Henry L Han
• Adam S Arterbery, The Jackson LaboratoryFollow
• Daniel Danis
• Michel van Geel
• Cristina Has
• Lisa Weibel
• Katariina Hannula-Jouppi
• Christine Bodemer
• Alain Hovnanian
• Peter N Robinson
• Mariëlle E van Gijn

Document Type

Article

Publication Date

8-18-2026

Original Citation

Cuperus E, Pasmans S, Han H, Arterbery A, Danis D, van Geel M, Has C, Weibel L, Hannula-Jouppi K, Bodemer C, Hovnanian A, Robinson P, van Gijn M. In-depth human phenotype ontology curation boosts prioritization performance for Netherton syndrome (SPINK5-syndromic epidermal differentiation disorder). The British journal of dermatology. 2026; 195(3):535

Keywords

JGM

ISSN

1365-2133

PMID

42299620

DOI

https://doi.org/10.1093/bjd/ljag249