| 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 |
SNOMEDCT_US_2023_03_01:312514006 |
| Subsets |
DO_rare_slim |
| Parent Relationships |
is_a autosomal recessive disease is_a skin disease |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance has symptom some inflammation |