| 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 |
SNOMEDCT_US_2023_03_01:15123008 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
MWS [EXACT] neutrophilic urticaria [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |