Metadata | |
---|---|
ID | DOID:0050854 |
Name | Muckle-Wells syndrome |
Definition | A syndrome characterized by episodic skin rash, arthralgias, and fever associated with late-onset sensorineural deafness and renal amyloidosis that has_material_basis_in heterozygous mutation in the NLRP3 gene on chromosome 1q44. https://www.ncbi.nlm.nih.gov/pubmed/11687797, https://www.ncbi.nlm.nih.gov/pubmed/11992256 |
Xrefs |
MEDDRA:10064569 SNOMEDCT_US_2023_03_01:15123008 |
Subsets |
DO_rare_slim NCIthesaurus |
Synonyms |
MWS [EXACT] neutrophilic urticaria [EXACT] |
Parent Relationships |
is_a syndrome |