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 )