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 |
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
Your Input Welcome
Thank you for submitting comments. Your input has been emailed to ZFIN curators who may contact you if
additional information is required.
Oops. Something went wrong. Please try again later.