OBO ID: DOID:0050474
Term Name: Netherton syndrome Search Ontology:
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:
Ontology: Human Disease   (DOID:0050474)
OTHER Netherton syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SPINK5 Netherton syndrome 256500
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None