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Human Disease

Muckle-Wells syndrome

Term ID
DOID:0050854
Synonyms
  • MWS
  • neutrophilic urticaria
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. (2)
References
  • GARD:8472
  • ICD10CM:M04.2
  • MEDDRA:10064569
  • MESH:D056587
  • MIM:191900
  • NCI:C119054
  • ORDO:575
  • SNOMEDCT_US_2023_03_01:15123008
  • UMLS_CUI:C0268390
Ontology
Human Disease   ( DOID:0050854 )
Relationships
is a type of
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Genes Involved
Zebrafish Models